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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:
CA36798964
Gene:
Linked Data
dbSNP Id:
rs1050748585
MyVariant Identifiers:
chr1:g.211553009G>T (hg19)
chr1:g.211379667G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379667G>T , CM000663.2:g.211379667G>T
GRCh38
NC_000001.10:g.211553009G>T , CM000663.1:g.211553009G>T
GRCh37
NC_000001.9:g.209619632G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738446.1:n.291+2528C>A
Search 100 bp 5'
Search 100 bp 3'