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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:
CA2537110809
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.61428213_61428214insCGGG , CM000665.2:g.61428213_61428214insCGGG
GRCh38
NC_000003.11:g.61413887_61413888insCGGG , CM000665.1:g.61413887_61413888insCGGG
GRCh37
NC_000003.10:g.61388927_61388928insCGGG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940892.1:n.164+302_164+303insCGCC
XR_940893.1:n.164+302_164+303insCGCC
XR_001740725.1:n.202+302_202+303insCGCC
XR_940892.2:n.202+302_202+303insCGCC
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