ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741993252
Gene: CHAMP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2504810
ClinVar RCV Id:
RCV003234401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115812.1:p.Pro259Leu
CA388847095
NM_032436.4:c.776C>T