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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:
CA1133855582
Gene:
Linked Data
dbSNP Id:
rs1927930464
gnomAD v3:
X-67096145-TA-T
gnomAD v4:
X-67096145-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67096148del , CM000685.2:g.67096148del
GRCh38
NC_000023.10:g.66315990del , CM000685.1:g.66315990del
GRCh37
NC_000023.9:g.66232715del
NCBI36
Search 100 bp 5'
Search 100 bp 3'