Canonical Allele Identifier: PA916037818
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102548
ClinVar RCV Id: RCV000088782 RCV002509213
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala395Asp
CA229374
NM_001354304.2:c.1184C>A