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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:
CA1551418012
Gene:
Linked Data
dbSNP Id:
rs1746303023
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63954834del , CM000667.2:g.63954834del
GRCh38
NC_000005.9:g.63250661del , CM000667.1:g.63250661del
GRCh37
NC_000005.8:g.63286417del
NCBI36
Search 100 bp 5'
Search 100 bp 3'