Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826068735

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072197

ClinVar RCV Id: RCV002962726 RCV003317633

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166045.2:p.Arg379Ile	CA4610469 NM_001172574.2:c.1136G>T