ClinGen Allele Registry
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Canonical Allele Identifier:
CA2573320738
Gene: MT-CYB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15498del , J01415.2:m.15498del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.752del
ENSP00000354554.2:p.Gly251AlafsTer8
Search 100 bp 5'
Search 100 bp 3'