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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:
CA1567407073
Gene:
Linked Data
dbSNP Id:
rs1747585945
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100613117_100613118del , CM000667.2:g.100613117_100613118del
GRCh38
NC_000005.9:g.99948821_99948822del , CM000667.1:g.99948821_99948822del
GRCh37
NC_000005.8:g.99976720_99976721del
NCBI36
Search 100 bp 5'
Search 100 bp 3'