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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:
CA1541192822
Gene:
Linked Data
dbSNP Id:
rs1743252694
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414752_40414755del , CM000667.2:g.40414752_40414755del
GRCh38
NC_000005.9:g.40414854_40414857del , CM000667.1:g.40414854_40414857del
GRCh37
NC_000005.8:g.40450611_40450614del
NCBI36
Search 100 bp 5'
Search 100 bp 3'