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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:
CA2599503846
Gene:
Linked Data
dbSNP Id:
rs2118689275
gnomAD v3:
9-87416807-AG-A
gnomAD v4:
9-87416807-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.87416808del , CM000671.2:g.87416808del
GRCh38
NC_000009.11:g.90031723del , CM000671.1:g.90031723del
GRCh37
NC_000009.10:g.89221543del
NCBI36
Search 100 bp 5'
Search 100 bp 3'