Canonical Allele Identifier: PA2825671699
Gene: CACNA1D HGNC NCBI

Linked Data

ClinVar Variation Id: 1722038
ClinVar RCV Id: RCV002295106
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001122311.1:p.Met1748Ile
CA353250971
NM_001128839.3:c.5244G>A
CA353250973
NM_001128839.3:c.5244G>T
CA353250975
NM_001128839.3:c.5244G>C