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: PA2580189113

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2254447

ClinVar RCV Id: RCV002787535

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Phe143Leu	CA368202224 NM_001282677.2:c.429T>G CA368202227 NM_001282677.2:c.429T>A CA368202253 NM_001282677.2:c.427T>C