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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:
CA1649549869
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98128391_98128393delinsCTT , CM000668.2:g.98128391_98128393delinsCTT
GRCh38
NC_000006.11:g.98576267_98576269delinsCTT , CM000668.1:g.98576267_98576269delinsCTT
GRCh37
NC_000006.10:g.98682988_98682990delinsCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942809.1:n.456+29121_456+29123delinsCTT
Search 100 bp 5'
Search 100 bp 3'