ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2499566144
Gene: MT-ATP6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9140C= , J01415.2:m.9140C=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.614C=
ENSP00000354632.2:p.Ala205=
Search 100 bp 5'
Search 100 bp 3'