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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:
CA1419635807
Gene:
Linked Data
dbSNP Id:
rs1777940730
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169763822_169763824del , CM000665.2:g.169763822_169763824del
GRCh38
NC_000003.11:g.169481610_169481612del , CM000665.1:g.169481610_169481612del
GRCh37
NC_000003.10:g.170964304_170964306del
NCBI36
NG_016363.1:g.6238_6240del , LRG_347:g.6238_6240del
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