Canonical Allele Identifier: PA658825330
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 556817
ClinVar RCV Id: RCV000672872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu358Phe
CA6748747
NM_000277.3:c.1074A>T
CA386493351
NM_000277.3:c.1074A>C