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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:
CA2557997524
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1102055del , CM000681.2:g.1102055del
GRCh38
NC_000019.9:g.1102054del , CM000681.1:g.1102054del
GRCh37
NC_000019.8:g.1053054del
NCBI36
NG_050621.1:g.3130del
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