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: PA2826664925

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 909478

ClinVar RCV Id: RCV001160554

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Leu712Pro	CA4341158 NM_001282677.2:c.2135T>C