Canonical Allele Identifier: PA916013799
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360915
ClinVar RCV Id: RCV000285353 RCV000733368 RCV001262592 RCV001507178 RCV003902401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Met917Leu
CA4340845
NM_001282678.2:c.2749A>T
CA368163675
NM_001282678.2:c.2749A>C