ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829583130
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521402
ClinVar RCV Id:
RCV000623060
RCV002287895
RCV002532836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005126.1:p.Arg156His
CA391612748
NM_005135.2:c.467G>A