×
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:
CA2569291878
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007077del , CM000664.2:g.195007077del
GRCh38
NC_000002.11:g.195871801del , CM000664.1:g.195871801del
GRCh37
NC_000002.10:g.195580046del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739836.1:n.553+52359del
Search 100 bp 5'
Search 100 bp 3'