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: CA915952147

Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693440

ClinVar RCV Id: RCV000854811 RCV002226500 RCV002249550 RCV003985436

dbSNP Id: rs1603223730

ERepo: CA915952147/MONDO:0044970/014

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.12425del , J01415.2:m.12425del	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361567.2:c.89del	ENSP00000354813.2:p.Asn30ThrfsTer7

Search 100 bp 5'

Search 100 bp 3'