ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093283
Gene: CHMP2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1654
ClinVar RCV Id:
RCV000020696
RCV000084279
ClinVar Variation Id:
2684154
ClinVar RCV Id:
RCV003482650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054762.2:p.Gln206His
CA224980
NM_014043.4:c.618A>C
CA2501045
NM_014043.4:c.618A>T