ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597262
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425161
ClinVar RCV Id:
RCV000488137
RCV000818299
RCV001262317
RCV002525994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Val1183Ile
CA9240285
NM_001127222.2:c.3547G>A