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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:
CA645611432
Gene: MT-ND6
HGNC
NCBI
Linked Data
COSMIC:
COSM1331639
COSM1331640
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14604_14605insT , J01415.2:m.14604_14605insT
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.69_70insA
ENSP00000354665.2:p.Ser24IlefsTer12
Search 100 bp 5'
Search 100 bp 3'