ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414795835
Gene: MT-ATP8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8375C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8375C>G , J01415.2:m.8375C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.10C>G
ENSP00000355265.1:p.Leu4Val
Search 100 bp 5'
Search 100 bp 3'