ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096817
Gene: MT-ND1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.4171C>T
Linked Data - NCBI & NCI
dbSNP:
28616230
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4171C>T , J01415.2:m.4171C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.865C>T
ENSP00000354687.2:p.Leu289=
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