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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:
CA1489446551
Gene:
Linked Data
dbSNP Id:
rs1732207522
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120591875_120591887del , CM000666.2:g.120591875_120591887del
GRCh38
NC_000004.11:g.121513030_121513042del , CM000666.1:g.121513030_121513042del
GRCh37
NC_000004.10:g.121732480_121732492del
NCBI36
Search 100 bp 5'
Search 100 bp 3'