Canonical Allele Identifier: PA916037511
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102737
ClinVar RCV Id: RCV000088986 RCV000668474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Trp187Cys
CA229626
NM_001354304.2:c.561G>C
CA386296845
NM_001354304.2:c.561G>T