ClinGen Allele Registry
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Canonical Allele Identifier:
CA414812056
Gene: MT-ND4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.12006G>A
Linked Data - NCBI & NCI
dbSNP:
1603223507
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12006G>A , J01415.2:m.12006G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1247G>A
ENSP00000354961.2:p.Trp416Ter
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