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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:
CA2553701118
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907188_128907198del , CM000670.2:g.128907188_128907198del
GRCh38
NC_000008.10:g.129919434_129919444del , CM000670.1:g.129919434_129919444del
GRCh37
NC_000008.9:g.129988616_129988626del
NCBI36
Search 100 bp 5'
Search 100 bp 3'