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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:
CA1081318895
Gene:
Linked Data
dbSNP Id:
rs1749618579
gnomAD v3:
5-127642333-AC-A
gnomAD v4:
5-127642333-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.127642336del , CM000667.2:g.127642336del
GRCh38
NC_000005.9:g.126978028del , CM000667.1:g.126978028del
GRCh37
NC_000005.8:g.127005927del
NCBI36
Search 100 bp 5'
Search 100 bp 3'