ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825672745
Gene: CACNA1D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1712630
ClinVar RCV Id:
RCV002300802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122312.1:p.Thr1754Lys
CA353250837
NM_001128840.2:c.5261C>A