Canonical Allele Identifier: PA229375
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_000268.1:p.Ala395Asp
CA229374
NM_000277.3:c.1184C>A