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: CA915952148

Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 800503

ClinVar RCV Id: RCV000984482

dbSNP Id: rs1603224770

ERepo: CA915952148/MONDO:0044970/014

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14513_14514del , J01415.2:m.14513_14514del	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361681.2:c.161_162del	ENSP00000354665.2:p.Ile54SerfsTer22

Search 100 bp 5'

Search 100 bp 3'