Canonical Allele Identifier: PA916037739
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102464
ClinVar RCV Id: RCV000088695 RCV001543646
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Cys334Ser
CA229263
NM_001354304.2:c.1001G>C
CA386493479
NM_001354304.2:c.1000T>A