ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826069399
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2396747
ClinVar RCV Id:
RCV002729983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166046.1:p.Thr426Asn
CA4610550
NM_001172575.2:c.1277C>A