Canonical Allele Identifier: PA2827140605
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198906
ClinVar RCV Id: RCV000180367 RCV001818445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Ala494Thr
CA247805
NM_001322042.2:c.1480G>A