ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580460366
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2121612
ClinVar RCV Id:
RCV003049250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Gln313Arg
CA404347009
NM_023035.3:c.938A>G