Canonical Allele Identifier: PA1139741921
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102594
ClinVar RCV Id: RCV000088833 RCV000666206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu44del
CA229435
NM_001354304.2:c.131_133del