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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:
CA1540976673
Gene:
Linked Data
dbSNP Id:
rs1746869565
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.39979053_39979056del , CM000667.2:g.39979053_39979056del
GRCh38
NC_000005.9:g.39979155_39979158del , CM000667.1:g.39979155_39979158del
GRCh37
NC_000005.8:g.40014912_40014915del
NCBI36
Search 100 bp 5'
Search 100 bp 3'