ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139759203
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
976218
ClinVar RCV Id:
RCV001253443
RCV002227259
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ser1347Tyr
CA404340027
NM_023035.3:c.4040C>A