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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:
CA2677988955
Gene:
Linked Data
gnomAD v4:
6-31575162-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31575167del , CM000668.2:g.31575167del
GRCh38
NC_000006.11:g.31542944del , CM000668.1:g.31542944del
GRCh37
NC_000006.10:g.31650923del
NCBI36
NG_007462.1:g.4595del
NG_012010.1:g.8069del
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