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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:
CA1605276921
Gene:
Linked Data
dbSNP Id:
rs1762570158
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.465998_465999del , CM000668.2:g.465998_465999del
GRCh38
NC_000006.11:g.465998_465999del , CM000668.1:g.465998_465999del
GRCh37
NC_000006.10:g.410998_410999del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_926364.1:n.2714+12273_2714+12274del
XR_926365.1:n.2548+12273_2548+12274del
XR_001743914.1:n.482-9210_482-9209del
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