Canonical Allele Identifier: PA234520
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167445
ClinVar RCV Id: RCV000153672 RCV000298239 RCV001328780 RCV001240934 RCV001824124 RCV002516087
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Met209Ile
CA234519
NM_000466.3:c.627G>A
CA368200823
NM_000466.3:c.627G>T
CA368200826
NM_000466.3:c.627G>C