ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645429210
Gene: SV2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161546
ClinVar RCV Id:
RCV000149081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055663.1:p.Arg513Trp
CA174311
NM_014848.7:c.1537C>T