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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:
CA2469660109
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2791234_2791235delinsAT , CM000686.2:g.2791234_2791235delinsAT
GRCh38
NC_000024.9:g.2659275_2659276delinsAT , CM000686.1:g.2659275_2659276delinsAT
GRCh37
NC_000024.8:g.2719275_2719276delinsAT
NCBI36
NG_011751.1:g.1517_1518delinsAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.106+16495_106+16496delinsAT
ENST00000681787.1:n.106+16495_106+16496delinsAT
ENST00000681940.1:n.106+16495_106+16496delinsAT
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