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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:
CA1098485769
Gene:
Linked Data
dbSNP Id:
rs1780689785
gnomAD v3:
7-12148886-TA-T
gnomAD v4:
7-12148886-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.12148889del , CM000669.2:g.12148889del
GRCh38
NC_000007.13:g.12188515del , CM000669.1:g.12188515del
GRCh37
NC_000007.12:g.12155040del
NCBI36
Search 100 bp 5'
Search 100 bp 3'