ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978051
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417863
ClinVar RCV Id:
RCV000477915
RCV000681948
RCV001328101
RCV004023099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Pro643Leu
CA8069667
NM_001126108.2:c.1928C>T