ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825672221
Gene: CACNA1D
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486721
ClinVar Variation:
421144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122312.1:p.Ala749Thr
CA16618002
NM_001128840.2:c.2245G>A