ClinGen Allele Registry
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Canonical Allele Identifier:
CA414801715
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693040
ClinVar RCV Id:
RCV000854383
dbSNP Id:
rs1603221949
MyVariant Identifiers:
chrMT:g.8974C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8974C>G , J01415.2:m.8974C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.448C>G
ENSP00000354632.2:p.Leu150Val
Search 100 bp 5'
Search 100 bp 3'