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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:
CA1424967492
Gene:
Linked Data
dbSNP Id:
rs1718329057
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.182133483_182133491del , CM000665.2:g.182133483_182133491del
GRCh38
NC_000003.11:g.181851271_181851279del , CM000665.1:g.181851271_181851279del
GRCh37
NC_000003.10:g.183333965_183333973del
NCBI36
Search 100 bp 5'
Search 100 bp 3'