ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106079
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000541910
RCV000710970
RCV000735340
RCV000764178
RCV002356583
RCV003985342
ClinVar Variation:
386521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Thr2045Met
CA9239469
NM_001174080.2:c.6134C>T