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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:
CA808412485
Gene: CNOT6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1285238799
MyVariant Identifiers:
chr5:g.180005360_180005362del (hg19)
chr5:g.180578360_180578362del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.180578360_180578362del , CM000667.2:g.180578360_180578362del
GRCh38
NC_000005.9:g.180005360_180005362del , CM000667.1:g.180005360_180005362del
GRCh37
NC_000005.8:g.179937966_179937968del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000393356.5:c.*4160_*4162del
ENSP00000377024.1:n.*4160_*4162del
NM_001303241.1:c.*4160_*4162del
NP_001290170.1:n.*4160_*4162del
NM_001303241.2:c.*4160_*4162del
NP_001290170.1:n.*4160_*4162del
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