ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070054
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429962
ClinVar RCV Id:
RCV000494033
RCV000707375
RCV002323856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ala1080Thr
CA9240385
NM_023035.3:c.3238G>A