ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093274
Gene: CHMP2B
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_054762.2:p.Asp148Tyr
NM_014043.4:c.442G>T