Canonical Allele Identifier: PA229278
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102474
ClinVar RCV Id: RCV000088705 RCV003330433
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala342Pro
CA229277
NM_000277.3:c.1024G>C