ClinGen Allele Registry
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Canonical Allele Identifier:
CA10581273
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235315
ClinVar RCV Id:
RCV000224714
RCV000853750
dbSNP Id:
rs878853008
MyVariant Identifiers:
chrMT:g.4219G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4219G>A , J01415.2:m.4219G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.913G>A
ENSP00000354687.2:p.Val305Ile
Search 100 bp 5'
Search 100 bp 3'