ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825594955
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
208540
ClinVar RCV:
RCV000194067
RCV000764184
RCV001289293
RCV003765213
ClinVar Variation:
210556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg198Gln
CA207980
NM_001127222.2:c.593G>A