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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509554.1:p.[Ser426_Pro431delinsPheArg;Gln434_Pro436del;Pro439_Ile455del]
CA171404576
ENST00000689348.1:c.1276dup