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: PA2828128813

Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072197

ClinVar RCV Id: RCV002962726 RCV003317633

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350908.1:p.Arg379Ile	CA4610469 NM_001363979.1:c.1136G>T