ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915977947
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255877
ClinVar RCV Id:
RCV000249415
RCV000898321
RCV001807154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Val404Ile
CA8069402
NM_001126108.2:c.1210G>A