ClinGen Allele Registry
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Canonical Allele Identifier:
CA414774257
Gene: MT-ND1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.4133C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4133C>T , J01415.2:m.4133C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.827C>T
ENSP00000354687.2:p.Ala276Val
Search 100 bp 5'
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