×
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:
CA2158508876
Gene:
Linked Data
dbSNP Id:
rs2056451889
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.99682998_99682999dup , CM000676.2:g.99682998_99682999dup
GRCh38
NC_000014.8:g.100149335_100149336dup , CM000676.1:g.100149335_100149336dup
GRCh37
NC_000014.7:g.99219088_99219089dup
NCBI36
NG_007963.1:g.3581_3582dup
Search 100 bp 5'
Search 100 bp 3'