ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2573329703
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8523C= , J01415.2:m.8523C=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.158C=
ENSP00000355265.1:p.Pro53=
Search 100 bp 5'
Search 100 bp 3'