ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828129681
Gene: MCPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350909.1:p.Pro735Ser
CA172535
NM_001363980.2:c.2203C>T