ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825598974
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383246
ClinVar RCV Id:
RCV000444802
RCV001224501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg2244His
CA16608108
NM_001127222.2:c.6731G>A