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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:
CA1279433993
Gene: ANAPC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.111712525_111712528delinsAATC , CM000664.2:g.111712525_111712528delinsAATC
GRCh38
NC_000002.11:g.112470102_112470105delinsAATC , CM000664.1:g.112470102_112470105delinsAATC
GRCh37
NC_000002.10:g.112186573_112186576delinsAATC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000643447.1:c.919+17751_919+17754delinsGATT
ENSP00000494863.1:n.919+17751_919+17754delinsGATT
XM_011512303.1:c.878+958_878+961delinsAATC
XP_011510605.1:n.878+958_878+961delinsAATC
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