ClinGen Allele Registry
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Canonical Allele Identifier:
CA913174648
Gene: MT-CYB
HGNC
NCBI
Linked Data
dbSNP Id:
rs2124599097
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15718T>C , J01415.2:m.15718T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.972T>C
ENSP00000354554.2:p.Leu324=
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