ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279041
Gene: KCNMA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200082
ClinVar Variation:
216948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002238.2:p.Thr352Ala
CA279039
NM_002247.4:c.1054A>G