ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580462269
Gene: CHPF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078812.3:p.Glu700Lys
CA2129272
NM_024536.6:c.2098G>A