ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337991
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123302.2:p.Ala1717Thr
CA337986
NM_001129830.3:c.5149G>A