ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580223085
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137406
ClinVar RCV Id:
RCV003041167
RCV003229102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Glu280Ala
CA16020696
NM_001354304.2:c.839A>C