ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449674
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_001120693.1:p.Thr2043Met
CA9239469
NM_001127221.2:c.6128C>T