ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245799
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000710.5:p.Lys2054Arg
CA245795
NM_000719.7:c.6161A>G