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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:
CA2804766204
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74747130_74747140del , CM000677.2:g.74747130_74747140del
GRCh38
NC_000015.9:g.75039471_75039481del , CM000677.1:g.75039471_75039481del
GRCh37
NC_000015.8:g.72826524_72826534del
NCBI36
NG_008431.1:g.29589_29599del
NG_008431.2:g.29589_29599del
NG_061543.1:g.3286_3296del
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