ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580223326
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2421739
ClinVar RCV Id:
RCV003116040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg420Gly
CA386493030
NM_001354304.2:c.1258A>G