ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825011507
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1904662
ClinVar RCV Id:
RCV002577792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Ser948Cys
CA404342631
NM_000068.4:c.2842A>T