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: PA2825182808

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036917

ClinVar RCV Id: RCV001339992 RCV002476567

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ser241Pro	CA4341552 NM_000466.3:c.721T>C