Allele Registry

Canonical Allele Identifier: PA229335

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088750

RCV000668925

RCV000669869

RCV001526923

ClinVar Variation:

102517

554266

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Lys363Asn	CA229334 NM_000277.3:c.1089G>T CA386493324 NM_000277.3:c.1089G>C