Canonical Allele Identifier: PA2573206143
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1453298
ClinVar RCV Id: RCV002000227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu205Asp
CA312804
NM_001354304.2:c.615G>C
CA386296707
NM_001354304.2:c.615G>T