ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096745
Gene: MT-ND1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3970C>T
Linked Data - NCBI & NCI
dbSNP:
9629042
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3970C>T , J01415.2:m.3970C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.664C>T
ENSP00000354687.2:p.Leu222=
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