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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:
CA1929289796
Gene:
Linked Data
dbSNP Id:
rs2031272505
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94937385del , CM000672.2:g.94937385del
GRCh38
NC_000010.10:g.96697142del , CM000672.1:g.96697142del
GRCh37
NC_000010.9:g.96687132del
NCBI36
NG_008385.1:g.3728del
NG_008385.2:g.4228del
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