Canonical Allele Identifier: PA2827140533
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211444
ClinVar RCV Id: RCV000193801 RCV000766028 RCV001852561 RCV003927791 RCV004020324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.His396Asn
CA207533
NM_001322042.2:c.1186C>A