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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:
CA2315357978
Gene:
Linked Data
dbSNP Id:
rs1977556854
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77153835_77153838del , CM000680.2:g.77153835_77153838del
GRCh38
NC_000018.9:g.74865791_74865794del , CM000680.1:g.74865791_74865794del
GRCh37
NC_000018.8:g.72994779_72994782del
NCBI36
Search 100 bp 5'
Search 100 bp 3'