ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070106
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000488137
RCV000818299
RCV001262317
RCV002525994
ClinVar Variation:
425161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Val1187Ile
CA9240285
NM_023035.3:c.3559G>A