ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825143574
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
887611
ClinVar RCV Id:
RCV001120453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Phe742Cys
CA395994719
NM_000339.3:c.2225T>G