ClinGen Allele Registry
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Canonical Allele Identifier:
CA254860
Gene: MT-ND1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.4136A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010378
RCV000853739
ClinVar Variation:
9727
dbSNP:
199476121
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4136A>G , J01415.2:m.4136A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.830A>G
ENSP00000354687.2:p.Tyr277Cys
Search 100 bp 5'
Search 100 bp 3'