ClinGen Allele Registry
Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: MCPH1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001308974.1:p.Thr434Asn
NM_001322045.1:c.[1300dup;1302del]
NM_001322045.1:c.1301C>A
