ClinGen Allele Registry
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Canonical Allele Identifier:
PA242644
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176622
RCV000415108
RCV000604986
RCV000623848
RCV000662176
RCV000662177
RCV000662178
RCV000662179
RCV001061471
RCV002227083
ClinVar Variation:
195935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Val1393Met
CA242642
NM_001127221.2:c.4177G>A