ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077495
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493466
ClinVar RCV Id:
RCV000584915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078872.3:p.Ile481Phe
CA4610557
NM_024596.5:c.1441A>T