ClinGen Allele Registry
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Canonical Allele Identifier:
CA250588
Gene: MT-CYB
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.15572T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010315
RCV002247304
ClinVar Variation:
9677
dbSNP:
207459996
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15572T>C , J01415.2:m.15572T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.826T>C
ENSP00000354554.2:p.Phe276Leu
Search 100 bp 5'
Search 100 bp 3'