ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825671713
Gene: CACNA1D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346152
ClinVar RCV Id:
RCV002029865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122311.1:p.Val1765Met
CA353251566
NM_001128839.3:c.5293G>A