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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:
CA1458504823
Gene:
Linked Data
dbSNP Id:
rs1720484399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54228497_54228498del , CM000666.2:g.54228497_54228498del
GRCh38
NC_000004.11:g.55094664_55094665del , CM000666.1:g.55094664_55094665del
GRCh37
NC_000004.10:g.54789421_54789422del
NCBI36
NG_009250.1:g.4401_4402del , LRG_309:g.4401_4402del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507166.5:c.1018-46428_1018-46427del
ENSP00000423325.1:n.1018-46428_1018-46427del
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