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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:
CA2537787674
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2791234del , CM000686.2:g.2791234del
GRCh38
NC_000024.9:g.2659275del , CM000686.1:g.2659275del
GRCh37
NC_000024.8:g.2719275del
NCBI36
NG_011751.1:g.1518del
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.106+16495del
ENST00000681787.1:n.106+16495del
ENST00000681940.1:n.106+16495del
Search 100 bp 5'
Search 100 bp 3'