ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499251813
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1065370
ClinVar RCV Id:
RCV001375884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Gly188Val
CA386296833
NM_001354304.2:c.563G>T