ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449864
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000484344
RCV001049031
RCV002525881
RCV003985360
ClinVar Variation:
421775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Glu2255Gln
CA9239269
NM_001127221.2:c.6763G>C