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: PA2828129408

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048284

ClinVar RCV Id: RCV002927082 RCV002927083

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350909.1:p.Ile381Val	CA4610471 NM_001363980.2:c.1141A>G