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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:
CA1831377519
Gene:
Linked Data
dbSNP Id:
rs1821887263
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.8012365_8012366del , CM000671.2:g.8012365_8012366del
GRCh38
NC_000009.11:g.8012365_8012366del , CM000671.1:g.8012365_8012366del
GRCh37
NC_000009.10:g.8002365_8002366del
NCBI36
Search 100 bp 5'
Search 100 bp 3'