ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231331
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1077594
ClinVar RCV Id:
RCV001392216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Thr956Met
CA8070071
NM_000339.3:c.2867C>T