ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825013794
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197514
ClinVar RCV Id:
RCV000178567
RCV000816451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg2139Gln
CA245719
NM_000068.4:c.6416G>A