×
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:
CA2302888770
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50861438_50861440delinsCTT , CM000680.2:g.50861438_50861440delinsCTT
GRCh38
NC_000018.9:g.48387808_48387810delinsCTT , CM000680.1:g.48387808_48387810delinsCTT
GRCh37
NC_000018.8:g.46641806_46641808delinsCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'