Canonical Allele Identifier: PA229306
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102495
ClinVar RCV Id: RCV000088726 RCV002498473
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser350Tyr
CA229305
NM_000277.3:c.1049C>A