ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825595638
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028205
ClinVar RCV Id:
RCV001329194
RCV001388993
RCV004526111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Ser177Leu
CA8069089
NM_001126107.2:c.530C>T