Canonical Allele Identifier: PA2573248222
Gene: PAX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419768
ClinVar RCV Id: RCV001910604 RCV002471186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006183.2:p.Pro392Arg
CA9786710
NM_006192.5:c.1175C>G