Canonical Allele Identifier: PA2741818141
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2682981
ClinVar RCV Id: RCV003481848
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Val673Leu
CA368183317
NM_000466.3:c.2017G>C