Allele Registry

Canonical Allele Identifier: PA916037382

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088860

RCV000106350

RCV001199974

ClinVar Variation:

102618

120269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asn61Lys	CA229471 NM_001354304.2:c.183C>G CA267644 NM_001354304.2:c.183C>A