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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:
CA2757880907
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743588dup , CM000665.2:g.109743588dup
GRCh38
NC_000003.11:g.109462435dup , CM000665.1:g.109462435dup
GRCh37
NC_000003.10:g.110945125dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63393dup
Search 100 bp 5'
Search 100 bp 3'