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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:
PA2827987382
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21030
ClinVar RCV Id:
RCV000020089
RCV000074239
RCV000034393
RCV000035078
RCV000132160
RCV000358689
RCV001270286
RCV002286403
RCV003996112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341829.1:p.Val1781Asp
CA010422
NM_001354900.2:c.5342T>A