Allele Registry

Canonical Allele Identifier: PA106256

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089192

ClinVar Variation:

102925

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Phe331Leu	CA229894 NM_000277.3:c.991T>C CA386493488 NM_000277.3:c.993T>G CA386493489 NM_000277.3:c.993T>A