ClinGen Allele Registry
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Canonical Allele Identifier:
PA645469639
Gene: KCNMA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000255423
RCV000504575
ClinVar Variation:
265313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014797.1:p.Asn999Ser
CA10588480
NM_001014797.3:c.2996A>G