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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:
CA1075337146
Gene:
Linked Data
dbSNP Id:
rs1743255790
gnomAD v3:
5-40414881-G-GTGA
gnomAD v4:
5-40414881-G-GTGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414883_40414884insATG , CM000667.2:g.40414883_40414884insATG
GRCh38
NC_000005.9:g.40414985_40414986insATG , CM000667.1:g.40414985_40414986insATG
GRCh37
NC_000005.8:g.40450742_40450743insATG
NCBI36
Search 100 bp 5'
Search 100 bp 3'