Canonical Allele Identifier: PA2573206248
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1474010
ClinVar RCV Id: RCV001970975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp315Glu
CA386291635
NM_001354304.2:c.945T>G
CA386291637
NM_001354304.2:c.945T>A