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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:
CA1605276846
Gene:
Linked Data
dbSNP Id:
rs1762568789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.465892del , CM000668.2:g.465892del
GRCh38
NC_000006.11:g.465892del , CM000668.1:g.465892del
GRCh37
NC_000006.10:g.410892del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926364.1:n.2714+12167del
XR_926365.1:n.2548+12167del
XR_001743914.1:n.482-9316del
Search 100 bp 5'
Search 100 bp 3'