ClinGen Allele Registry
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Canonical Allele Identifier:
CA345759
Gene: MT-CYB
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.15452C>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133456
RCV000855295
ClinVar Variation:
143925
dbSNP:
193302994
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15452C>A , J01415.2:m.15452C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.706C>A
ENSP00000354554.2:p.Leu236Ile
Search 100 bp 5'
Search 100 bp 3'