ClinGen Allele Registry
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Canonical Allele Identifier:
CA170530
Gene: MT-CYB
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.15884G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133439
RCV000855397
ClinVar Variation:
143900
dbSNP:
527236195
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15884G>A , J01415.2:m.15884G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.1138G>A
ENSP00000354554.2:p.Ala380Thr
Search 100 bp 5'
Search 100 bp 3'