ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829659104
Gene: CHERP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006378.3:p.Arg726Lys
CA305961240
NM_006387.6:c.2177G>A