ClinGen Allele Registry
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Canonical Allele Identifier:
PA267595
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100735
ClinVar RCV Id:
RCV000087101
RCV000622448
RCV001271946
RCV001731374
RCV002477258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.Leu167Pro
CA267594
NM_012434.5:c.500T>C