ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141571
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_001308974.2:p.Ile447Phe
CA4610557
NM_001322045.2:c.1339A>T