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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:
CA2740098360
Gene: MT-ND5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13709_13713del , J01415.2:m.13709_13713del
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1373_1377del
ENSP00000354813.2:p.Ala458GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'