Canonical Allele Identifier: PA220588
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92749
ClinVar RCV Id: RCV000078533 RCV000721177
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro281Ser
CA220587
NM_000277.3:c.841C>T