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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:
CA2499569023
Gene: MT-CYB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15452_15453delinsCT , J01415.2:m.15452_15453delinsCT
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361789.2:c.706_707delinsCT
ENSP00000354554.2:p.Leu236=
Search 100 bp 5'
Search 100 bp 3'