ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144867
Gene: CACNA1D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000711.1:p.Ile770Met
CA144866
NM_000720.4:c.2310C>G