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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:
CA1471048893
Gene:
Linked Data
dbSNP Id:
rs1722045891
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.79643397del , CM000666.2:g.79643397del
GRCh38
NC_000004.11:g.80564551del , CM000666.1:g.80564551del
GRCh37
NC_000004.10:g.80783575del
NCBI36
Search 100 bp 5'
Search 100 bp 3'