ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239265
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058068
ClinVar RCV Id:
RCV001367159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Pro1060Leu
CA409208356
NM_001134771.2:c.3179C>T