ClinGen Allele Registry
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Canonical Allele Identifier:
CA414772770
Gene: MT-ND1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.3431C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3431C>T , J01415.2:m.3431C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.125C>T
ENSP00000354687.2:p.Pro42Leu
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