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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:
CA83387015
Gene:
Linked Data
dbSNP Id:
rs547718435
gnomAD v2:
3-128260461-CTAAT-C
gnomAD v3:
3-128541618-CTAAT-C
gnomAD v4:
3-128541618-CTAAT-C
MyVariant Identifiers:
chr3:g.128260462_128260465del (hg19)
chr3:g.128541619_128541622del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.128541620_128541623del , CM000665.2:g.128541620_128541623del
GRCh38
NC_000003.11:g.128260463_128260466del , CM000665.1:g.128260463_128260466del
GRCh37
NC_000003.10:g.129743153_129743156del
NCBI36
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