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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:
CA2144473227
Gene:
Linked Data
dbSNP Id:
rs1895390464
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68807144del , CM000676.2:g.68807144del
GRCh38
NC_000014.8:g.69273861del , CM000676.1:g.69273861del
GRCh37
NC_000014.7:g.68343614del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011537441.1:c.673-489del
XP_011535743.1:n.673-489del
XM_011537442.1:c.673-489del
XP_011535744.1:n.673-489del
XM_011537443.1:c.673-489del
XP_011535745.1:n.673-489del
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