Canonical Allele Identifier: PA201127
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194335
ClinVar RCV Id: RCV000174683 RCV000676107 RCV001085472
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu757Phe
CA201126
NM_000466.3:c.2271G>C
CA4341165
NM_000466.3:c.2271G>T