ClinGen Allele Registry
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Canonical Allele Identifier:
PA916069996
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000418250
RCV001058158
RCV003993961
ClinVar Variation:
387025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg991Pro
CA16608158
NM_023035.3:c.2972G>C