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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:
CA1067493406
Gene:
Linked Data
dbSNP Id:
rs1724635655
gnomAD v3:
4-122759866-CCTT-C
gnomAD v4:
4-122759866-CCTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759870_122759872del , CM000666.2:g.122759870_122759872del
GRCh38
NC_000004.11:g.123681025_123681027del , CM000666.1:g.123681025_123681027del
GRCh37
NC_000004.10:g.123900475_123900477del
NCBI36
Search 100 bp 5'
Search 100 bp 3'