ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826069409
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2388401
ClinVar RCV Id:
RCV002703654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166046.1:p.Ile433Val
CA370221641
NM_001172575.2:c.1297A>G