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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:
CA1044992613
Gene:
Linked Data
dbSNP Id:
rs1696010852
gnomAD v3:
3-10137011-AC-A
gnomAD v4:
3-10137011-AC-A
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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10137015del , CM000665.2:g.10137015del
GRCh38
NC_000003.11:g.10178699del , CM000665.1:g.10178699del
GRCh37
NC_000003.10:g.10153699del
NCBI36
NG_008212.3:g.381del , LRG_322:g.381del
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