ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915977875
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009117
RCV001381397
ClinVar Variation:
8586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Arg209Trp
CA119768
NM_001126108.2:c.625C>T