Canonical Allele Identifier: PA916037516
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102740
ClinVar RCV Id: RCV000088989 RCV000632878
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val190Ala
CA229631
NM_001354304.2:c.569T>C