ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829583309
Gene: SLC12A6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
322257
ClinVar RCV:
RCV000395538
RCV000879703
RCV003957635
ClinVar Variation:
315618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005126.1:p.Arg287Cys
CA7464420
NM_005135.2:c.859C>T