ClinGen Allele Registry
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Canonical Allele Identifier:
CA414774214
Gene: MT-ND1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.4115T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4115T>C , J01415.2:m.4115T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.809T>C
ENSP00000354687.2:p.Phe270Ser
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