ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825014261
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000484344
RCV001049031
RCV002525881
RCV003985360
ClinVar Variation:
421775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Glu2260Gln
CA9239269
NM_000068.4:c.6778G>C