ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104127
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2073405
ClinVar RCV Id:
RCV002971863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Met625Val
CA078633
NM_000069.3:c.1873A>G