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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:
CA547937210
Gene:
Linked Data
dbSNP Id:
rs1444108775
gnomAD v2:
3-169481585-CCT-C
gnomAD v3:
3-169763797-CCT-C
gnomAD v4:
3-169763797-CCT-C
MyVariant Identifiers:
chr3:g.169481586_169481587del (hg19)
chr3:g.169763798_169763799del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169763798_169763799del , CM000665.2:g.169763798_169763799del
GRCh38
NC_000003.11:g.169481586_169481587del , CM000665.1:g.169481586_169481587del
GRCh37
NC_000003.10:g.170964280_170964281del
NCBI36
NG_016363.1:g.6262_6263del , LRG_347:g.6262_6263del
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