Canonical Allele Identifier: PA2827141181
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350408
ClinVar RCV Id: RCV002039720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Thr466Ser
CA4610543
NM_001322043.2:c.1397C>G
CA370221570
NM_001322043.2:c.1396A>T