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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:
CA1535480928
Gene:
Linked Data
dbSNP Id:
rs1737499779
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339836_28339837del , CM000667.2:g.28339836_28339837del
GRCh38
NC_000005.9:g.28339943_28339944del , CM000667.1:g.28339943_28339944del
GRCh37
NC_000005.8:g.28375700_28375701del
NCBI36
Search 100 bp 5'
Search 100 bp 3'