ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414795893
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603221447
MyVariant Identifiers:
chrMT:g.8390T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8390T>C , J01415.2:m.8390T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.25T>C
ENSP00000355265.1:p.Trp9Arg
Search 100 bp 5'
Search 100 bp 3'