Canonical Allele Identifier: PA658663623
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV000515773
ClinVar Variation:
446506
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gly312Cys
CA386291684
NM_000277.3:c.934G>T