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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:
CA2115403248
Gene:
Linked Data
dbSNP Id:
rs1880144133
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.103275611_103275614del , CM000675.2:g.103275611_103275614del
GRCh38
NC_000013.10:g.103927961_103927964del , CM000675.1:g.103927961_103927964del
GRCh37
NC_000013.9:g.102725962_102725965del
NCBI36
Search 100 bp 5'
Search 100 bp 3'