Canonical Allele Identifier: PA229517
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102651
ClinVar RCV Id: RCV000088897 RCV002259587
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser110Leu
CA229516
NM_000277.3:c.329C>T