ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645508028
Gene: SLC12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285887
ClinVar RCV Id:
RCV000348606
RCV002248509
RCV002509348
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000329.2:p.Arg302Gln
CA7546932
NM_000338.3:c.905G>A