ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580481770
Gene: CHAMP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2257654
ClinVar RCV Id:
RCV002783078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115812.1:p.Val415Glu
CA7070769
NM_032436.4:c.1244T>A