ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247806
Gene: MCPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078872.2:p.Ala494Thr
CA247805
NM_024596.4:c.1480G>A