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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:
CA1099625345
Gene:
Linked Data
dbSNP Id:
rs1783881079
gnomAD v3:
7-27298257-GTTC-G
gnomAD v4:
7-27298257-GTTC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298260_27298262del , CM000669.2:g.27298260_27298262del
GRCh38
NC_000007.13:g.27337879_27337881del , CM000669.1:g.27337879_27337881del
GRCh37
NC_000007.12:g.27304404_27304406del
NCBI36
Search 100 bp 5'
Search 100 bp 3'