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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:
CA1222509738
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220678235_220678240delinsCTCTTT , CM000663.2:g.220678235_220678240delinsCTCTTT
GRCh38
NC_000001.10:g.220851577_220851582delinsCTCTTT , CM000663.1:g.220851577_220851582delinsCTCTTT
GRCh37
NC_000001.9:g.218918200_218918205delinsCTCTTT
NCBI36
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