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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:
CA2261156609
Gene:
Linked Data
dbSNP Id:
rs2048638862
rs2151400631
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952718del , CM000679.2:g.43952718del
GRCh38
NC_000017.10:g.42030086del , CM000679.1:g.42030086del
GRCh37
NC_000017.9:g.39385612del
NCBI36
NG_023338.1:g.56754del
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