Canonical Allele Identifier: PA2580116608
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129402
ClinVar RCV Id: RCV003049971
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Pro739Ser
CA368181080
NM_000466.3:c.2215C>T