ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825013256
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500851
ClinVar RCV Id:
RCV000593477
RCV000818527
RCV002272299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Ala1813Thr
CA404333762
NM_000068.4:c.5437G>A