ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825594729
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2953327
ClinVar RCV Id:
RCV003810445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Met59del
CA2740091966
NM_001127222.2:c.174_176del