ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449411
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391877
ClinVar RCV Id:
RCV000710948
RCV001080177
RCV001643142
RCV003985352
RCV002446750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Gly1090Cys
CA9240371
NM_001127221.2:c.3268G>T