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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:
CA1067493424
Gene:
Linked Data
dbSNP Id:
rs1385110398
gnomAD v3:
4-122759873-TTCTTC-T
gnomAD v4:
4-122759873-TTCTTC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759883_122759887del , CM000666.2:g.122759883_122759887del
GRCh38
NC_000004.11:g.123681038_123681042del , CM000666.1:g.123681038_123681042del
GRCh37
NC_000004.10:g.123900488_123900492del
NCBI36
Search 100 bp 5'
Search 100 bp 3'