Canonical Allele Identifier: PA220979
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93108
ClinVar RCV Id: RCV000078924 RCV000368382 RCV001277303 RCV001252811 RCV003935024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ala931Asp
CA220978
NM_000466.3:c.2792C>A