Canonical Allele Identifier: PA2741867159
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2573212
ClinVar RCV Id: RCV003316901

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly332Arg
CA386493486
NM_001354304.2:c.994G>A
CA386493487
NM_001354304.2:c.994G>C