Allele Registry

Canonical Allele Identifier: PA2827140736

Gene: MCPH1 HGNC NCBI

ClinVar RCV:

RCV000146289

RCV000301716

RCV001539042

ClinVar Variation:

158834

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308971.2:p.Thr682Asn	CA172500 NM_001322042.2:c.2045C>A