ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645470663
Gene: MCPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_078872.2:p.Thr468Asn
NM_024596.4:c.[1402dup;1404del]
NM_024596.4:c.1403C>A