Canonical Allele Identifier: PA2827140590
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2396747
ClinVar RCV Id: RCV002729983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Thr474Asn
CA4610550
NM_001322042.2:c.1421C>A