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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:
CA302922346
Gene:
Linked Data
dbSNP Id:
rs3056884
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77134155_77134159del , CM000680.2:g.77134155_77134159del
GRCh38
NC_000018.9:g.74846111_74846115del , CM000680.1:g.74846111_74846115del
GRCh37
NC_000018.8:g.72975099_72975103del
NCBI36
Search 100 bp 5'
Search 100 bp 3'