Canonical Allele Identifier: PA2827141189
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333562
ClinVar RCV Id: RCV001808250 RCV001869586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Thr475Ile
CA171404591
NM_001322043.2:c.1424C>T