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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:
CA2740098123
Gene: MT-ND2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5406dup , J01415.2:m.5406dup
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.937dup
ENSP00000355046.4:p.Ile313AsnfsTer6
Search 100 bp 5'
Search 100 bp 3'