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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:
CA2687386757
Gene:
Linked Data
gnomAD v4:
8-60281409-AGCGCCTGGCGAATTTTATACCCGACCGGGGCGTGTCTGGTACGCGAGGATCCGCCCCCTTCTCTCTCTGGCCGTTGGGGCCAGGGGAGCCGACAGTTAGAAT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.60281416_60281517del , CM000670.2:g.60281416_60281517del
GRCh38
NC_000008.10:g.61193975_61194076del , CM000670.1:g.61193975_61194076del
GRCh37
NC_000008.9:g.61356529_61356630del
NCBI36
NG_023193.1:g.4885_4986del
NG_023193.2:g.4885_4986del
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