Allele Registry

Canonical Allele Identifier: PA916037587

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089063

RCV000340479

RCV003230902

ClinVar Variation:

102810

2503911

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val245Leu	CA229724 NM_001354304.2:c.733G>C CA386295775 NM_001354304.2:c.733G>T CA2580614529 NM_001354304.2:c.733_735delinsCTA