ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961040
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8584
ClinVar RCV Id:
RCV000009115
RCV000805008
RCV002512930
RCV003421914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Leu859Pro
CA250046
NM_000339.3:c.2576T>C