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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:
CA1222509727
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220678225_220678232delinsCTTCTCTT , CM000663.2:g.220678225_220678232delinsCTTCTCTT
GRCh38
NC_000001.10:g.220851567_220851574delinsCTTCTCTT , CM000663.1:g.220851567_220851574delinsCTTCTCTT
GRCh37
NC_000001.9:g.218918190_218918197delinsCTTCTCTT
NCBI36
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