Allele Registry

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.

Canonical Allele Identifier: PA2828034308

Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41659

ClinVar RCV Id: RCV000034571 RCV000537682 RCV001019424 RCV001535776

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341847.1:p.Val1031Met	CA215710 NM_001354918.1:c.3091G>A