Allele Registry

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Canonical Allele Identifier: PA2828128827

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_001350908.1:p.Asp392Gly	CA149260 NM_001363979.1:c.1175A>G CA2739278721 NM_001363979.1:c.1175_1176delinsGG