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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:
CA2168477562
Gene:
Linked Data
dbSNP Id:
rs2055075758
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.32702574_32702589del , CM000677.2:g.32702574_32702589del
GRCh38
NC_000015.9:g.32994775_32994790del , CM000677.1:g.32994775_32994790del
GRCh37
NC_000015.8:g.30782067_30782082del
NCBI36
Search 100 bp 5'
Search 100 bp 3'