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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:
CA2391192210
Gene:
Linked Data
dbSNP Id:
rs1987645182
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43348586del , CM000683.2:g.43348586del
GRCh38
NC_000021.8:g.44768466del , CM000683.1:g.44768466del
GRCh37
NC_000021.7:g.43592894del
NCBI36
Search 100 bp 5'
Search 100 bp 3'