ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808310
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523365
ClinVar RCV Id:
RCV000626681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138886.1:p.Ala26del
CA658799817
NM_001145414.4:c.75_77del