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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796533
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692888
ClinVar RCV Id:
RCV000854221
dbSNP Id:
rs1556423481
MyVariant Identifiers:
chrMT:g.8531A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8531A>G , J01415.2:m.8531A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361851.1:c.166A>G
(MT-ATP8)
ENSP00000355265.1:p.Thr56Ala
ENST00000361899.2:c.5A>G
(MT-ATP6)
ENSP00000354632.2:p.Asn2Ser
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