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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:
CA1099625343
Gene:
Linked Data
dbSNP Id:
rs1185175121
gnomAD v3:
7-27298257-G-GTT
gnomAD v4:
7-27298257-G-GTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298258_27298259dup , CM000669.2:g.27298258_27298259dup
GRCh38
NC_000007.13:g.27337877_27337878dup , CM000669.1:g.27337877_27337878dup
GRCh37
NC_000007.12:g.27304402_27304403dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'