ClinGen Allele Registry
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Canonical Allele Identifier:
CA913175045
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693969
ClinVar RCV Id:
RCV000855392
dbSNP Id:
rs201023973
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15860A>T , J01415.2:m.15860A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.1114A>T
ENSP00000354554.2:p.Ile372Phe
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