ClinGen Allele Registry
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Canonical Allele Identifier:
CA913177052
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805051
ClinVar RCV Id:
RCV000992367
dbSNP Id:
rs1603219333
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4167C>T , J01415.2:m.4167C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.861C>T
ENSP00000354687.2:p.His287=
Search 100 bp 5'
Search 100 bp 3'