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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:
CA337098053
Gene: MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692996
ClinVar RCV Id:
RCV000854336
dbSNP Id:
rs1556423547
MyVariant Identifiers:
chrMT:g.8839G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8839G>A , J01415.2:m.8839G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361899.2:c.313G>A
ENSP00000354632.2:p.Ala105Thr
Search 100 bp 5'
Search 100 bp 3'