ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915977948
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225467
ClinVar RCV Id:
RCV002515599
RCV000490283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Asn406His
CA8069403
NM_001126108.2:c.1216A>C