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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA223645241
Gene: CHRM1
HGNC
NCBI
Linked Data
dbSNP Id:
rs992985717
MyVariant Identifiers:
chr11:g.62676845G>C (hg19)
chr11:g.62909373G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.62909373G>C , CM000673.2:g.62909373G>C
GRCh38
NC_000011.9:g.62676845G>C , CM000673.1:g.62676845G>C
GRCh37
NC_000011.8:g.62433421G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306960.4:c.*345C>G
MANE Select
ENSP00000306490.3:n.*345C>G
ENST00000306960.3:c.*345C>G
ENSP00000306490.3:n.*345C>G
NM_000738.2:c.*345C>G
NP_000729.2:n.*345C>G
XM_011544742.1:c.*345C>G
XP_011543044.1:n.*345C>G
XM_011544742.2:c.*345C>G
XP_011543044.1:n.*345C>G
NM_000738.3:c.*345C>G
MANE Select
NP_000729.2:n.*345C>G
Search 100 bp 5'
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