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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:
CA1468603669
Gene:
Linked Data
dbSNP Id:
rs1750545030
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74304350del , CM000666.2:g.74304350del
GRCh38
NC_000004.11:g.75170067del , CM000666.1:g.75170067del
GRCh37
NC_000004.10:g.75388931del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938877.1:n.120-25572del
XR_938877.2:n.126-25572del
Search 100 bp 5'
Search 100 bp 3'