ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825142257
Gene: SLC12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716703
ClinVar RCV Id:
RCV002295999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000329.2:p.Phe381Ser
CA392308582
NM_000338.3:c.1142T>C