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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:
CA554201348
Gene:
Linked Data
dbSNP Id:
rs1310241586
gnomAD v2:
4-123353275-CAATGAAAACAGAATAT-C
gnomAD v3:
4-122432120-CAATGAAAACAGAATAT-C
gnomAD v4:
4-122432120-CAATGAAAACAGAATAT-C
MyVariant Identifiers:
chr4:g.123353276_123353291del (hg19)
chr4:g.122432121_122432136del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122432122_122432137del , CM000666.2:g.122432122_122432137del
GRCh38
NC_000004.11:g.123353277_123353292del , CM000666.1:g.123353277_123353292del
GRCh37
NC_000004.10:g.123572727_123572742del
NCBI36
Search 100 bp 5'
Search 100 bp 3'