ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827169517
Gene: KCNMA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000813847
ClinVar Variation:
657271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309758.1:p.Leu114Met
CA5568765
NM_001322829.2:c.340C>A