Allele Registry

Canonical Allele Identifier: PA105113

Gene: PAH HGNC NCBI

ClinVar Allele:

108541

ClinVar RCV:

RCV000089056

RCV000688713

ClinVar Variation:

102805

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg241Leu	CA229716 NM_000277.3:c.722G>T