ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827174185
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_001309767.1:p.Thr172Ala
CA279039
NM_001322838.2:c.514A>G