Canonical Allele Identifier: PA2573206052
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1443943
ClinVar RCV Id: RCV001981528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu78Asp
CA386304160
NM_001354304.2:c.234A>T
CA386304161
NM_001354304.2:c.234A>C