ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093303
Gene: CHMP2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35472
ClinVar RCV Id:
RCV000055937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054762.2:p.Thr104Asn
CA260074
NM_014043.4:c.311C>A