ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414796243
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs879209186
MyVariant Identifiers:
chrMT:g.8472C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8472C>A , J01415.2:m.8472C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.107C>A
ENSP00000355265.1:p.Pro36His
Search 100 bp 5'
Search 100 bp 3'