×
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:
CA2589319798
Gene:
Linked Data
dbSNP Id:
rs2124170700
gnomAD v3:
Y-19703820-CTGATA-C
gnomAD v4:
Y-19703820-CTGATA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19703822_19703826del , CM000686.2:g.19703822_19703826del
GRCh38
NC_000024.9:g.21865708_21865712del , CM000686.1:g.21865708_21865712del
GRCh37
NC_000024.8:g.20325096_20325100del
NCBI36
NG_032920.1:g.46115_46119del
Search 100 bp 5'
Search 100 bp 3'