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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:
CA1057418960
Gene:
Linked Data
dbSNP Id:
rs1712184834
gnomAD v3:
3-186861905-TG-T
gnomAD v4:
3-186861905-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861906del , CM000665.2:g.186861906del
GRCh38
NC_000003.11:g.186579695del , CM000665.1:g.186579695del
GRCh37
NC_000003.10:g.188062389del
NCBI36
Search 100 bp 5'
Search 100 bp 3'