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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:
CA970326978
Gene:
Linked Data
gnomAD v3:
15-58750051-GAGCGCTCCTACGCGGAGAT-G
gnomAD v4:
15-58750051-GAGCGCTCCTACGCGGAGAT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750054_58750072del , CM000677.2:g.58750054_58750072del
GRCh38
NC_000015.9:g.59042253_59042271del , CM000677.1:g.59042253_59042271del
GRCh37
NC_000015.8:g.56829545_56829563del
NCBI36
NG_033876.1:g.4909_4927del
NG_033876.2:g.4638_4656del
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