ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426321
Gene: CHMP2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260314
ClinVar RCV Id:
RCV000249485
RCV000335262
RCV000514690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054762.2:p.Ser187Asn
CA2501038
NM_014043.4:c.560G>A