Canonical Allele Identifier: PA916037799
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 556882
ClinVar RCV Id: RCV000672945
ClinVar Variation Id: 872835
ClinVar RCV Id: RCV001093510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe382Leu
CA16020948
NM_001354304.2:c.1146C>G
CA386493220
NM_001354304.2:c.1146C>A
CA386493225
NM_001354304.2:c.1144T>C