ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827169692
Gene: KCNMA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2015076
ClinVar RCV Id:
RCV002839272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309758.1:p.Glu439Lys
CA377407871
NM_001322829.2:c.1315G>A