×
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:
CA2585109199
Gene:
Linked Data
gnomAD v4:
19-40285601-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40285602dup , CM000681.2:g.40285602dup
GRCh38
NC_000019.9:g.40791509dup , CM000681.1:g.40791509dup
GRCh37
NC_000019.8:g.45483349dup
NCBI36
NG_012038.2:g.4757dup
Search 100 bp 5'
Search 100 bp 3'