Canonical Allele Identifier: PA916037780
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 556817
ClinVar RCV Id: RCV000672872
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu358Phe
CA6748747
NM_001354304.2:c.1074A>T
CA386493351
NM_001354304.2:c.1074A>C