ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913179290
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8488C>A , J01415.2:m.8488C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.123C>A
ENSP00000355265.1:p.Pro41=
Search 100 bp 5'
Search 100 bp 3'