ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233573
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68425
ClinVar RCV Id:
RCV000059295
RCV000152897
RCV000513873
RCV001080277
RCV002426621
RCV003985266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Pro897Arg
CA233571
NM_001127221.2:c.2690C>G