Canonical Allele Identifier: PA2580223227
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2103816
ClinVar RCV Id: RCV003041524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser350Cys
CA386493408
NM_001354304.2:c.1049C>G