ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826069414
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1902671
ClinVar RCV Id:
RCV002583102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166046.1:p.Ile433Thr
CA370221643
NM_001172575.2:c.1298T>C