ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573316357
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955630.3:p.Ala2079Val
CA6390041
NM_199460.4:c.6236C>T