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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:
CA2740098328
Gene: MT-ND3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10205_10207del , J01415.2:m.10205_10207del
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361227.2:c.147_149del
ENSP00000355206.2:p.Pro50del
Search 100 bp 5'
Search 100 bp 3'