ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195170
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
619153
ClinVar RCV Id:
RCV000758105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Leu367Val
CA16020938
NM_000277.3:c.1099C>G