ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448296
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373933
ClinVar RCV Id:
RCV000415249
RCV000803741
RCV001753849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg192Trp
CA16043551
NM_023035.3:c.574C>T