ClinGen Allele Registry
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Canonical Allele Identifier:
CA16043603
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373995
ClinVar RCV Id:
RCV000415336
dbSNP Id:
rs1057518823
MyVariant Identifiers:
chrMT:g.15446C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15446C>T , J01415.2:m.15446C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.700C>T
ENSP00000354554.2:p.Leu234Phe
Search 100 bp 5'
Search 100 bp 3'