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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:
CA919829584
Gene:
Linked Data
dbSNP Id:
rs2151371572
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.34252724del , CM000679.2:g.34252724del
GRCh38
NC_000017.10:g.32579743del , CM000679.1:g.32579743del
GRCh37
NC_000017.9:g.29603856del
NCBI36
NG_012123.1:g.2448del
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