ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825672727
Gene: CACNA1D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450779
ClinVar RCV Id:
RCV000522167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122312.1:p.Ala1721Thr
CA353250232
NM_001128840.2:c.5161G>A