ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099509
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.12612A>C
Linked Data - NCBI & NCI
dbSNP:
28359172
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12612A>C , J01415.2:m.12612A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.276A>C
ENSP00000354813.2:p.Val92=
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