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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:
CA2545064223
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439961_31439962insCCTTAC , CM000668.2:g.31439961_31439962insCCTTAC
GRCh38
NC_000006.11:g.31407738_31407739insCCTTAC , CM000668.1:g.31407738_31407739insCCTTAC
GRCh37
NC_000006.10:g.31515717_31515718insCCTTAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.145_146insGTAAGG
Search 100 bp 5'
Search 100 bp 3'