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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:
CA1062621874
Gene:
Linked Data
gnomAD v3:
4-54072297-ATCTC-A
gnomAD v4:
4-54072297-ATCTC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54072298_54072301del , CM000666.2:g.54072298_54072301del
GRCh38
NC_000004.11:g.54938465_54938468del , CM000666.1:g.54938465_54938468del
GRCh37
NC_000004.10:g.54633222_54633225del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000507166.5:c.1018-202627_1018-202624del
ENSP00000423325.1:n.1018-202627_1018-2026...
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