Canonical Allele Identifier: PA2825119947
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1493643
ClinVar RCV Id: RCV001986635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000309.2:p.Val76Leu
CA371557817
NM_000318.3:c.226G>C
CA371557818
NM_000318.3:c.226G>T