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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:
CA117719465
Gene:
Linked Data
dbSNP Id:
rs970541160
gnomAD v2:
5-40490766-AT-A
gnomAD v3:
5-40490664-AT-A
gnomAD v4:
5-40490664-AT-A
MyVariant Identifiers:
chr5:g.40490767del (hg19)
chr5:g.40490665del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40490672del , CM000667.2:g.40490672del
GRCh38
NC_000005.9:g.40490774del , CM000667.1:g.40490774del
GRCh37
NC_000005.8:g.40526531del
NCBI36
Search 100 bp 5'
Search 100 bp 3'