ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481554
Gene: CACNA1D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402284
ClinVar RCV Id:
RCV000454162
RCV001861652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000711.1:p.Ala376Val
CA2453852
NM_000720.4:c.1127C>T