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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:
CA1373744024
Gene:
Linked Data
dbSNP Id:
rs1701574765
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577207_70577218del , CM000665.2:g.70577207_70577218del
GRCh38
NC_000003.11:g.70626358_70626369del , CM000665.1:g.70626358_70626369del
GRCh37
NC_000003.10:g.70709048_70709059del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940947.1:n.407-1259_407-1248del
XR_001740559.1:n.367-1259_367-1248del
Search 100 bp 5'
Search 100 bp 3'