Canonical Allele Identifier: PA916037594
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102816
ClinVar RCV Id: RCV000089071 RCV000668140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly247Arg
CA229732
NM_001354304.2:c.739G>C