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: PA2830481640

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_982299.1:p.Ser373Leu	CA16621413 NM_203473.3:c.1118C>T