Canonical Allele Identifier: PA916037659
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 208181
ClinVar RCV Id: RCV000190377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro279Leu
CA275939
NM_001354304.2:c.836C>T
CA645584082
NM_001354304.2:c.836_837delinsTT