ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913169379
Gene: MT-ND1
HGNC
NCBI
Linked Data
dbSNP Id:
rs386828907
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3453C>T , J01415.2:m.3453C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.147C>T
ENSP00000354687.2:p.Phe49=
Search 100 bp 5'
Search 100 bp 3'