ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253471
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5331
ClinVar RCV Id:
RCV000005657
RCV000790223
RCV002512812
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Arg207Cys
CA253467
NM_133647.2:c.619C>T