ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099154
Gene: MT-ND4
HGNC
NCBI
Linked Data
dbSNP Id:
rs28358285
MyVariant Identifiers:
chrMT:g.11299T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11299T>C , J01415.2:m.11299T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361381.2:c.540T>C
ENSP00000354961.2:p.Thr180=
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