×
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:
CA2747398517
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.203187906_203187907del , CM000663.2:g.203187906_203187907del
GRCh38
NC_000001.10:g.203157034_203157035del , CM000663.1:g.203157034_203157035del
GRCh37
NC_000001.9:g.201423657_201423658del
NCBI36
NG_013056.1:g.3893_3894del
Search 100 bp 5'
Search 100 bp 3'