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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:
CA919117638
Gene:
Linked Data
dbSNP Id:
rs1566106752
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938447del , CM000674.2:g.71938447del
GRCh38
NC_000012.11:g.72332227del , CM000674.1:g.72332227del
GRCh37
NC_000012.10:g.70618494del
NCBI36
NG_008279.1:g.4602del
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