ClinGen Allele Registry
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Canonical Allele Identifier:
CA414773529
Gene: MT-ND1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3797C>G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3797C>G , J01415.2:m.3797C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.491C>G
ENSP00000354687.2:p.Thr164Ser
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