Canonical Allele Identifier: PA106530
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102492
ClinVar RCV Id: RCV000088723 RCV001040702
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser349Leu
CA229302
NM_000277.3:c.1046C>T