ClinGen Allele Registry
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Canonical Allele Identifier:
CA414798402
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8838G>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8838G>C , J01415.2:m.8838G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.312G>C
ENSP00000354632.2:p.Met104Ile
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