ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825968129
Gene: CHAMP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
592137
ClinVar RCV Id:
RCV000723339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157617.1:p.Pro384Ser
CA388847875
NM_001164145.3:c.1150C>T