Canonical Allele Identifier: PA1139728077
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987907
ClinVar RCV Id: RCV001269313

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg400Ser
CA16020967
NM_001354304.2:c.1200G>T
CA386493118
NM_001354304.2:c.1200G>C