ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825671174
Gene: CACNA1D
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056308
RCV000122488
ClinVar Variation:
66073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122311.1:p.Ile750Met
CA144866
NM_001128839.3:c.2250C>G