ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825013977
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_000059.3:p.Arg2207Trp
CA16608886
NM_000068.4:c.6619C>T