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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:
CA2573104412
Gene: MT-ND1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4023_4025del , J01415.2:m.4023_4025del
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.717_719del
ENSP00000354687.2:p.Thr240del
Search 100 bp 5'
Search 100 bp 3'