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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:
CA1519930693
Gene:
Linked Data
dbSNP Id:
rs1739313273
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186264200_186264203del , CM000666.2:g.186264200_186264203del
GRCh38
NC_000004.11:g.187185354_187185357del , CM000666.1:g.187185354_187185357del
GRCh37
NC_000004.10:g.187422348_187422351del
NCBI36
NG_008051.1:g.3237_3240del , LRG_583:g.3237_3240del
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