ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828081485
Gene: CHMP7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350112.1:p.Gln249Glu
CA370586329
NM_001363183.2:c.745C>G