ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA414796301
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs369661971
MyVariant Identifiers:
chrMT:g.8485G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8485G>T , J01415.2:m.8485G>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.120G>T
ENSP00000355265.1:p.Lys40Asn
Search 100 bp 5'
Search 100 bp 3'