×
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:
CA728757828
Gene:
Linked Data
dbSNP Id:
rs1199730984
MyVariant Identifiers:
chr1:g.186640609_186640610del (hg19)
chr1:g.186671477_186671478del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671478_186671479del , CM000663.2:g.186671478_186671479del
GRCh38
NC_000001.10:g.186640610_186640611del , CM000663.1:g.186640610_186640611del
GRCh37
NC_000001.9:g.184907233_184907234del
NCBI36
NG_028206.2:g.13950_13951del
Search 100 bp 5'
Search 100 bp 3'