ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796228
Gene: MT-ATP8
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8468C>A
Linked Data - NCBI & NCI
dbSNP:
1116907
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8468C>A , J01415.2:m.8468C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.103C>A
ENSP00000355265.1:p.Leu35Ile
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