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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:
CA2499764558
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748364_148748365insTT , CM000666.2:g.148748364_148748365insTT
GRCh38
NC_000004.11:g.149669516_149669517insTT , CM000666.1:g.149669516_149669517insTT
GRCh37
NC_000004.10:g.149888966_149888967insTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118393_1746-118392insTT
Search 100 bp 5'
Search 100 bp 3'