ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827141547
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2229547
ClinVar RCV Id:
RCV002697528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308974.2:p.Lys416del
CA580027947
NM_001322045.2:c.1246_1248del