ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA301209
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170763
RCV002354419
RCV002515226
RCV003389757
ClinVar Variation:
190629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123312.1:p.Met2017Thr
CA301204
NM_001129840.2:c.6050T>C