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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:
CA1819059989
Gene:
Linked Data
dbSNP Id:
rs1813960520
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907057_128907058insG , CM000670.2:g.128907057_128907058insG
GRCh38
NC_000008.10:g.129919303_129919304insG , CM000670.1:g.129919303_129919304insG
GRCh37
NC_000008.9:g.129988485_129988486insG
NCBI36
Search 100 bp 5'
Search 100 bp 3'