×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2809162079
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237136_30237265del , CM000679.2:g.30237136_30237265del
GRCh38
NC_000017.10:g.28564154_28564283del , CM000679.1:g.28564154_28564283del
GRCh37
NC_000017.9:g.25588280_25588409del
NCBI36
NG_011747.2:g.3680_3809del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+66_165+195del
XR_001752824.1:n.280+66_280+195del
Search 100 bp 5'
Search 100 bp 3'