ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA340937
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.12848C>T
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010350
ClinVar Variation:
9704
dbSNP:
267606899
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12848C>T , J01415.2:m.12848C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.512C>T
ENSP00000354813.2:p.Ala171Val
Search 100 bp 5'
Search 100 bp 3'