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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:
CA2573105331
Gene: MT-CYB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.15390_15393del , J01415.2:m.15390_15393del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.644_647del
ENSP00000354554.2:p.Ser215LeufsTer24
Search 100 bp 5'
Search 100 bp 3'