ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503252
Gene: CHM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000381.1:p.Arg239Ter
NM_000390.4:c.715C>T