Allele Registry

Canonical Allele Identifier: PA229472

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088860

RCV000106350

RCV001199974

ClinVar Variation:

102618

120269

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Asn61Lys	CA229471 NM_000277.3:c.183C>G CA267644 NM_000277.3:c.183C>A