ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597329
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422133
ClinVar RCV Id:
RCV000483313
RCV001070658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Met1217Val
CA9240245
NM_001127222.2:c.3649A>G