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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:
CA53676925
Gene:
Linked Data
dbSNP Id:
rs1553446573
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112805784_112805785delinsC , CM000664.2:g.112805784_112805785delinsC
GRCh38
NC_000002.11:g.113563361_113563362delinsC , CM000664.1:g.113563361_113563362delinsC
GRCh37
NC_000002.10:g.113279832_113279833delinsC
NCBI36
Search 100 bp 5'
Search 100 bp 3'