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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000303500.2:p.Trp182Ter
ENST00000307000.7:c.[543del;545G>T;547G>A...

ENST00000307000.7:c.[543_544del;546G>T;54...

ENST00000307000.7:c.545G>A

ENST00000307000.7:c.546G>A