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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:
CA900513047
Gene:
Linked Data
dbSNP Id:
rs1216882932
gnomAD v3:
3-148696918-C-CT
gnomAD v4:
3-148696918-C-CT
MyVariant Identifiers:
chr3:g.148414705_148414706insT (hg19)
chr3:g.148696918_148696919insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.148696923dup , CM000665.2:g.148696923dup
GRCh38
NC_000003.11:g.148414710dup , CM000665.1:g.148414710dup
GRCh37
NC_000003.10:g.149897400dup
NCBI36
NG_008468.1:g.4053dup
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