ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597309
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000594032
RCV001528103
RCV001854006
ClinVar Variation:
497421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Gly1213Ser
CA9240247
NM_001127222.2:c.3637G>A