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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:
CA2500426693
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54072292_54072298del , CM000666.2:g.54072292_54072298del
GRCh38
NC_000004.11:g.54938459_54938465del , CM000666.1:g.54938459_54938465del
GRCh37
NC_000004.10:g.54633216_54633222del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000507166.5:c.1018-202633_1018-202627del
ENSP00000423325.1:n.1018-202633_1018-2026...
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