Canonical Allele Identifier: PA2573206150
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1496717
ClinVar RCV Id: RCV001992017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp222Glu
CA386296600
NM_001354304.2:c.666T>G
CA386296601
NM_001354304.2:c.666T>A