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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:
CA1222509734
Gene:
Linked Data
dbSNP Id:
rs1669879234
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220678241_220678252del , CM000663.2:g.220678241_220678252del
GRCh38
NC_000001.10:g.220851583_220851594del , CM000663.1:g.220851583_220851594del
GRCh37
NC_000001.9:g.218918206_218918217del
NCBI36
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