ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741981838
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003423363
ClinVar Variation:
2649377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2390Gln
CA404328026
NM_023035.3:c.7169G>A