ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796153
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603221485
MyVariant Identifiers:
chrMT:g.8451T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8451T>C , J01415.2:m.8451T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.86T>C
ENSP00000355265.1:p.Leu29Ser
Search 100 bp 5'
Search 100 bp 3'