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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:
CA915952151
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693886
ClinVar RCV Id:
RCV000855296
dbSNP Id:
rs1603225292
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15452_15453delinsAC , J01415.2:m.15452_15453delinsAC
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.706_707delinsAC
ENSP00000354554.2:p.Leu236Thr
Search 100 bp 5'
Search 100 bp 3'