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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:
CA2522443153
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.103275577del , CM000675.2:g.103275577del
GRCh38
NC_000013.10:g.103927927del , CM000675.1:g.103927927del
GRCh37
NC_000013.9:g.102725928del
NCBI36
Search 100 bp 5'
Search 100 bp 3'