ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414797229
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692944
ClinVar RCV Id:
RCV000854281
dbSNP Id:
rs1603221675
MyVariant Identifiers:
chrMT:g.8657C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8657C>T , J01415.2:m.8657C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.131C>T
ENSP00000354632.2:p.Thr44Ile
Search 100 bp 5'
Search 100 bp 3'