ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580481786
Gene: CHAMP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115812.1:p.Gly648Asp
CA388850035
NM_032436.4:c.1943G>A