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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:
CA2770069626
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.14138041_14138044del , CM000668.2:g.14138041_14138044del
GRCh38
NC_000006.11:g.14138272_14138275del , CM000668.1:g.14138272_14138275del
GRCh37
NC_000006.10:g.14246251_14246254del
NCBI36
NG_030372.1:g.25786_25789del
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