ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213544
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123299.1:p.Val2059Ile
CA213536
NM_001129827.2:c.6175G>A