ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104134
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2197278
ClinVar RCV Id:
RCV002651300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Pro633Arg
CA078654
NM_000069.3:c.1898C>G