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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:
CA918744307
Gene:
Linked Data
dbSNP Id:
rs1590201350
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99873063_99873066del , CM000672.2:g.99873063_99873066del
GRCh38
NC_000010.10:g.101632820_101632823del , CM000672.1:g.101632820_101632823del
GRCh37
NC_000010.9:g.101622810_101622813del
NCBI36
Search 100 bp 5'
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