ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825408444
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2775944
ClinVar RCV Id:
RCV003662849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035960.1:p.Val165Ile
CA391611709
NM_001042495.2:c.493G>A