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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:
CA655576862
Gene:
Linked Data
COSMIC:
COSN22839015
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545748_105545760del , CM000675.2:g.105545748_105545760del
GRCh38
NC_000013.10:g.106198097_106198109del , CM000675.1:g.106198097_106198109del
GRCh37
NC_000013.9:g.104996098_104996110del
NCBI36
Search 100 bp 5'
Search 100 bp 3'