Canonical Allele Identifier: PA229728
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102813
ClinVar RCV Id: RCV000089068 RCV000673258
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala246Val
CA229727
NM_000277.3:c.737C>T