ClinGen Allele Registry
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Canonical Allele Identifier:
PA645416062
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294715
ClinVar RCV Id:
RCV000380331
RCV000810862
RCV001356451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Asp1516His
CA083441
NM_000069.3:c.4546G>C