Canonical Allele Identifier: PA2827141169
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229547
ClinVar RCV Id: RCV002697528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Lys448del
CA580027947
NM_001322043.2:c.1342_1344del