ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825671992
Gene: CACNA1D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226479
ClinVar RCV Id:
RCV000213122
RCV003278701
RCV004530267
RCV000901570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122311.1:p.Arg2122Lys
CA2455449
NM_001128839.3:c.6365G>A