ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825012477
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000486810
RCV003766687
ClinVar Variation:
421023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg1352Trp
CA16620787
NM_000068.4:c.4054C>T