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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:
CA1618524806
Gene:
Linked Data
dbSNP Id:
rs1772157099
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29950257_29950260del , CM000668.2:g.29950257_29950260del
GRCh38
NC_000006.11:g.29918034_29918037del , CM000668.1:g.29918034_29918037del
GRCh37
NC_000006.10:g.30026013_30026016del
NCBI36
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