Canonical Allele Identifier: PA2741867097
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2581517
ClinVar RCV Id: RCV003331922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp129His
CA386302215
NM_001354304.2:c.385G>C