ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426309
Gene: CHMP2B
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000390491
RCV000516998
RCV003401367
ClinVar Variation:
346806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054762.2:p.Thr73Met
CA2500938
NM_014043.4:c.218C>T