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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:
CA1279927774
Gene:
Linked Data
dbSNP Id:
rs1681606284
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112805726del , CM000664.2:g.112805726del
GRCh38
NC_000002.11:g.113563303del , CM000664.1:g.113563303del
GRCh37
NC_000002.10:g.113279774del
NCBI36
Search 100 bp 5'
Search 100 bp 3'