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: PA2826602266

Gene: PORCN HGNC NCBI

Linked Data

ClinVar Variation Id: 421875

ClinVar RCV Id: RCV000486452

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269096.1:p.Ser296Leu	CA16621413 NM_001282167.2:c.887C>T