Canonical Allele Identifier: PA267663
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120280
ClinVar RCV Id: RCV000106361

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu197Phe
CA267662
NM_000277.3:c.591G>C
CA386296753
NM_000277.3:c.591G>T