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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:
CA2488842763
Gene:
Linked Data
dbSNP Id:
rs1661028756
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.11117453_11117457del , CM000664.2:g.11117453_11117457del
GRCh38
NC_000002.11:g.11257579_11257583del , CM000664.1:g.11257579_11257583del
GRCh37
NC_000002.10:g.11175030_11175034del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_040080.1:n.984+3306_984+3310del
Search 100 bp 5'
Search 100 bp 3'