Canonical Allele Identifier: PA1139728059
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 962987
ClinVar RCV Id: RCV001236942

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Lys396Arg
CA6748729
NM_001354304.2:c.1187A>G