ClinGen Allele Registry
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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'