ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580488129
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2178630
ClinVar RCV Id:
RCV002591474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Val212Ser
CA2580089320
NM_133647.2:c.634_635delinsTC