ClinGen Allele Registry
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Canonical Allele Identifier:
CA254852
Gene: MT-CYB
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.15812G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010313
RCV000855379
ClinVar Variation:
9675
dbSNP:
200336777
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15812G>A , J01415.2:m.15812G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.1066G>A
ENSP00000354554.2:p.Val356Ile
Search 100 bp 5'
Search 100 bp 3'