ClinGen Allele Registry
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Canonical Allele Identifier:
CA345921
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8839G>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144024
RCV000495688
ClinVar Variation:
155892
dbSNP:
1556423547
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8839G>C , J01415.2:m.8839G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.313G>C
ENSP00000354632.2:p.Ala105Pro
Search 100 bp 5'
Search 100 bp 3'