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: PA2827563245

Gene: KRIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360884

ClinVar RCV Id: RCV000283819 RCV000343551 RCV000721826 RCV001700011 RCV002392920

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001337612.1:p.Ile415Met	CA4339171 NM_001350683.1:c.1245T>G