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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:
CA812047268
Gene:
Linked Data
dbSNP Id:
rs1183080593
gnomAD v3:
5-53560523-CT-C
gnomAD v4:
5-53560523-CT-C
MyVariant Identifiers:
chr5:g.52856354del (hg19)
chr5:g.53560524del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.53560530del , CM000667.2:g.53560530del
GRCh38
NC_000005.9:g.52856360del , CM000667.1:g.52856360del
GRCh37
NC_000005.8:g.52892117del
NCBI36
NG_008200.1:g.4896del
Search 100 bp 5'
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