ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106283
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000443580
RCV000990164
RCV001219860
RCV003168640
ClinVar Variation:
380390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Arg2204Trp
CA16608886
NM_001174080.2:c.6610C>T