Canonical Allele Identifier: PA229310
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102497
ClinVar RCV Id: RCV000088728 RCV002514541
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gly352Cys
CA229309
NM_000277.3:c.1054G>T