Canonical Allele Identifier: PA2828129073
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 908101
ClinVar RCV Id: RCV001158397 RCV003546666 RCV004032833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.His733Gln
CA4610852
NM_001363979.1:c.2199C>G
CA370217514
NM_001363979.1:c.2199C>A