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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
Allele Registry
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Canonical Allele Identifier:
CA337098062
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693000
ClinVar RCV Id:
RCV000854340
dbSNP Id:
rs386829053
COSMIC:
COSM488776
COSM1138409
MyVariant Identifiers:
chrMT:g.8843T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8843T>C , J01415.2:m.8843T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361899.2:c.317T>C
ENSP00000354632.2:p.Ile106Thr
Search 100 bp 5'
Search 100 bp 3'