ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092416
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5615
ClinVar RCV Id:
RCV000005967
RCV000414141
RCV000763563
RCV001095363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.Arg39Cys
CA340439
NM_012434.5:c.115C>T