ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415950
Gene: CACNA1S
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000060.2:p.Ser606Asn
NM_000069.3:c.1817G>A