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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000448059.1:p.Trp187Ter
ENST00000553106.6:c.[558del;560G>T;562G>A...

ENST00000553106.6:c.[558_559del;561G>T;56...

ENST00000553106.6:c.560G>A

ENST00000553106.6:c.561G>A