ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099854
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693636
ClinVar RCV Id:
RCV000855014
dbSNP Id:
rs28359184
MyVariant Identifiers:
chrMT:g.13928G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13928G>A , J01415.2:m.13928G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1592G>A
ENSP00000354813.2:p.Ser531Asn
Search 100 bp 5'
Search 100 bp 3'