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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:
CA1008355137
Gene:
Linked Data
dbSNP Id:
rs1661362671
gnomAD v3:
1-160660409-ACT-A
gnomAD v4:
1-160660409-ACT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160660418_160660419del , CM000663.2:g.160660418_160660419del
GRCh38
NC_000001.10:g.160630208_160630209del , CM000663.1:g.160630208_160630209del
GRCh37
NC_000001.9:g.158896832_158896833del
NCBI36
Search 100 bp 5'
Search 100 bp 3'