×
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:
CA2285934729
Gene:
Linked Data
dbSNP Id:
rs2045476423
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13916331del , CM000680.2:g.13916331del
GRCh38
NC_000018.9:g.13916330del , CM000680.1:g.13916330del
GRCh37
NC_000018.8:g.13906330del
NCBI36
NG_011819.1:g.4207del
Search 100 bp 5'
Search 100 bp 3'