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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:
CA2144473207
Gene:
Linked Data
dbSNP Id:
rs1895389986
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68807098del , CM000676.2:g.68807098del
GRCh38
NC_000014.8:g.69273815del , CM000676.1:g.69273815del
GRCh37
NC_000014.7:g.68343568del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011537441.1:c.673-442del
XP_011535743.1:n.673-442del
XM_011537442.1:c.673-442del
XP_011535744.1:n.673-442del
XM_011537443.1:c.673-442del
XP_011535745.1:n.673-442del
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