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Canonical Allele Identifier:
CA337099661
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.13276A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000854915
ClinVar Variation:
693540
dbSNP:
2853502
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13276A>G , J01415.2:m.13276A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.940A>G
ENSP00000354813.2:p.Ile314Val
Search 100 bp 5'
Search 100 bp 3'