ClinGen Allele Registry
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Canonical Allele Identifier:
CA414801650
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693036
ClinVar RCV Id:
RCV000854378
dbSNP Id:
rs1603221944
MyVariant Identifiers:
chrMT:g.8959G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8959G>A , J01415.2:m.8959G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.433G>A
ENSP00000354632.2:p.Glu145Lys
Search 100 bp 5'
Search 100 bp 3'