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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:
CA2696727160
Gene:
Linked Data
dbSNP Id:
rs76473925
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.147089051dup , CM000663.2:g.147089051dup
GRCh38
NC_000001.10:g.146560598dup , CM000663.1:g.146560598dup
GRCh37
NC_000001.9:g.145027222dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000444082.1:n.1845+20816dup
Search 100 bp 5'
Search 100 bp 3'