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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:
CA2341689102
Gene:
Linked Data
dbSNP Id:
rs2088738489
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.52104566_52104567del , CM000681.2:g.52104566_52104567del
GRCh38
NC_000019.9:g.52607819_52607820del , CM000681.1:g.52607819_52607820del
GRCh37
NC_000019.8:g.57299631_57299632del
NCBI36
Search 100 bp 5'
Search 100 bp 3'