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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:
CA1535481143
Gene:
Linked Data
dbSNP Id:
rs1737506554
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28340246_28340249del , CM000667.2:g.28340246_28340249del
GRCh38
NC_000005.9:g.28340353_28340356del , CM000667.1:g.28340353_28340356del
GRCh37
NC_000005.8:g.28376110_28376113del
NCBI36
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