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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:
CA1618524799
Gene:
Linked Data
dbSNP Id:
rs1772156102
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29950249del , CM000668.2:g.29950249del
GRCh38
NC_000006.11:g.29918026del , CM000668.1:g.29918026del
GRCh37
NC_000006.10:g.30026005del
NCBI36
Search 100 bp 5'
Search 100 bp 3'