ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825011480
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972075
ClinVar RCV Id:
RCV001248018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Gly942Val
CA9240469
NM_000068.4:c.2825G>T