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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:
CA1058775495
Gene:
Linked Data
gnomAD v3:
4-4717602-TA-T
gnomAD v4:
4-4717602-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.4717604del , CM000666.2:g.4717604del
GRCh38
NC_000004.11:g.4719331del , CM000666.1:g.4719331del
GRCh37
NC_000004.10:g.4770232del
NCBI36
Search 100 bp 5'
Search 100 bp 3'