Canonical Allele Identifier: PA2827141128
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 435834
ClinVar RCV Id: RCV000503451 RCV001164996 RCV002527266
ClinVar Variation Id: 1419316
ClinVar RCV Id: RCV001964544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.His394Gln
CA4610484
NM_001322043.2:c.1182C>A
CA171404570
NM_001322043.2:c.1182C>G