Canonical Allele Identifier: PA1139728163
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 937913
ClinVar RCV Id: RCV001207037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr418Ile
CA386493037
NM_001354304.2:c.1253C>T