ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825143011
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3162846
ClinVar RCV Id:
RCV004456245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Leu245Met
CA8069163
NM_000339.3:c.733C>A