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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:
CA558630898
Gene:
Linked Data
dbSNP Id:
rs1258253072
gnomAD v2:
5-28339913-AAT-A
gnomAD v3:
5-28339806-AAT-A
gnomAD v4:
5-28339806-AAT-A
MyVariant Identifiers:
chr5:g.28339914_28339915del (hg19)
chr5:g.28339807_28339808del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339807_28339808del , CM000667.2:g.28339807_28339808del
GRCh38
NC_000005.9:g.28339914_28339915del , CM000667.1:g.28339914_28339915del
GRCh37
NC_000005.8:g.28375671_28375672del
NCBI36
Search 100 bp 5'
Search 100 bp 3'