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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:
CA1616588231
Gene:
Linked Data
dbSNP Id:
rs1777893900
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24648104del , CM000668.2:g.24648104del
GRCh38
NC_000006.11:g.24648332del , CM000668.1:g.24648332del
GRCh37
NC_000006.10:g.24756311del
NCBI36
NG_016206.1:g.3053del
NG_052787.1:g.23785del
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