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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:
CA809034511
Gene:
Linked Data
dbSNP Id:
rs1243052719
gnomAD v3:
5-23907508-AACTT-A
gnomAD v4:
5-23907508-AACTT-A
MyVariant Identifiers:
chr5:g.23907618_23907621del (hg19)
chr5:g.23907509_23907512del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.23907510_23907513del , CM000667.2:g.23907510_23907513del
GRCh38
NC_000005.9:g.23907619_23907622del , CM000667.1:g.23907619_23907622del
GRCh37
NC_000005.8:g.23943376_23943379del
NCBI36
Search 100 bp 5'
Search 100 bp 3'