ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093635
Gene: SLC12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009296
ClinVar Variation:
8753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000329.2:p.Val272Phe
CA119889
NM_000338.3:c.814G>T