ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598132
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_001119580.2:p.Leu850Pro
CA250046
NM_001126108.2:c.2549T>C