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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:
CA999780255
Gene:
Linked Data
gnomAD v3:
1-25800131-CTGCGG-C
gnomAD v4:
1-25800131-CTGCGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.25800132_25800136del , CM000663.2:g.25800132_25800136del
GRCh38
NC_000001.10:g.26126623_26126627del , CM000663.1:g.26126623_26126627del
GRCh37
NC_000001.9:g.25999210_25999214del
NCBI36
NG_009930.1:g.4957_4961del
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