ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580127318
Gene: CACNA1D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000711.1:p.Pro382Leu
CA353384056
NM_000720.4:c.1145C>T