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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:
CA913173935
Gene: MT-CYB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693887
ClinVar RCV Id:
RCV000855300
dbSNP Id:
rs1603225298
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15462T>C , J01415.2:m.15462T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.716T>C
ENSP00000354554.2:p.Leu239Ser
Search 100 bp 5'
Search 100 bp 3'