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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:
CA2553019848
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2791275del , CM000686.2:g.2791275del
GRCh38
NC_000024.9:g.2659316del , CM000686.1:g.2659316del
GRCh37
NC_000024.8:g.2719316del
NCBI36
NG_011751.1:g.1481del
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.106+16536del
ENST00000681787.1:n.106+16536del
ENST00000681940.1:n.106+16536del
Search 100 bp 5'
Search 100 bp 3'