ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414797195
Gene: MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8653A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8653A>T , J01415.2:m.8653A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.127A>T
ENSP00000354632.2:p.Ile43Phe
Search 100 bp 5'
Search 100 bp 3'