ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596283
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000279337
RCV000901287
RCV003417765
ClinVar Variation:
225469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Val577Met
CA8069592
NM_001126107.2:c.1729G>A