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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:
CA1222509740
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220678235_220678255delinsCTCTTTTCTTTTCTCTTTCTT , CM000663.2:g.220678235_220678255delinsCTCTTTTCTTTTCTCTTTCTT
GRCh38
NC_000001.10:g.220851577_220851597delinsCTCTTTTCTTTTCTCTTTCTT , CM000663.1:g.220851577_220851597delinsCTCTTTTCTTTTCTCTTTCTT
GRCh37
NC_000001.9:g.218918200_218918220delinsCTCTTTTCTTTTCTCTTTCTT
NCBI36
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