×
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:
CA1419635847
Gene:
Linked Data
dbSNP Id:
rs1777941542
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169763898_169763899del , CM000665.2:g.169763898_169763899del
GRCh38
NC_000003.11:g.169481686_169481687del , CM000665.1:g.169481686_169481687del
GRCh37
NC_000003.10:g.170964380_170964381del
NCBI36
NG_016363.1:g.6162_6163del , LRG_347:g.6162_6163del
Search 100 bp 5'
Search 100 bp 3'