ClinGen Allele Registry
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Canonical Allele Identifier:
CA913174669
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693937
ClinVar RCV Id:
RCV000855355
dbSNP Id:
rs1603225438
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15725C>T , J01415.2:m.15725C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.979C>T
ENSP00000354554.2:p.Leu327Phe
Search 100 bp 5'
Search 100 bp 3'