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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:
CA1047835744
Gene:
Linked Data
dbSNP Id:
rs1702545241
gnomAD v3:
3-50314707-AGGGCCCAGGATGCT-A
gnomAD v4:
3-50314707-AGGGCCCAGGATGCT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.50314711_50314724del , CM000665.2:g.50314711_50314724del
GRCh38
NC_000003.11:g.50352142_50352155del , CM000665.1:g.50352142_50352155del
GRCh37
NC_000003.10:g.50327146_50327159del
NCBI36
NG_009295.1:g.2661_2674del
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