Canonical Allele Identifier: PA2827141127
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96126
ClinVar RCV Id: RCV000082198 RCV000603959 RCV001664382
ClinVar Variation Id: 2799283
ClinVar RCV Id: RCV003668433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Asp390Gly
CA149260
NM_001322043.2:c.1169A>G
CA2739278721
NM_001322043.2:c.1169_1170delinsGG