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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:
CA262352003
Gene:
Linked Data
dbSNP Id:
rs58095767
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501585dup , CM000676.2:g.62501585dup
GRCh38
NC_000014.8:g.62968303dup , CM000676.1:g.62968303dup
GRCh37
NC_000014.7:g.62038056dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2456dup
XR_943932.2:n.103-2456dup
Search 100 bp 5'
Search 100 bp 3'