ClinGen Allele Registry
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Canonical Allele Identifier:
PA3068464265
Gene: CHMP2B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054762.2:p.Thr104Ile
CA353697148
NM_014043.4:c.311C>T