ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580427137
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2191897
ClinVar RCV Id:
RCV002620838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Pro987Leu
CA9887756
NM_020708.5:c.2960C>T