ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449385
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000440421
RCV000553097
RCV002318456
ClinVar Variation:
385634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg1057Cys
CA9240398
NM_001127221.2:c.3169C>T