Canonical Allele Identifier: PA229476
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102620
ClinVar RCV Id: RCV000088862 RCV000758122
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.His64Asn
CA229475
NM_000277.3:c.190C>A