Canonical Allele Identifier: PA2827140707
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199171
ClinVar RCV Id: RCV003372638 RCV000724059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Lys644Glu
CA248230
NM_001322042.2:c.1930A>G