ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825013901
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000732133
RCV000764175
RCV001087818
RCV002311805
RCV003985362
ClinVar Variation:
421988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg2175Cys
CA9239341
NM_000068.4:c.6523C>T