Canonical Allele Identifier: PA229831
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102882
ClinVar RCV Id: RCV000089143 RCV000758136
ClinVar Variation Id: 458082
ClinVar RCV Id: RCV000548849
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gly289Arg
CA229830
NM_000277.3:c.865G>C
CA386294434
NM_000277.3:c.865G>A