×
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:
CA2338166323
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44905720_44905759delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG , CM000681.2:g.44905720_44905759delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG
GRCh38
NC_000019.9:g.45408977_45409016delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG , CM000681.1:g.45408977_45409016delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG
GRCh37
NC_000019.8:g.50100817_50100856delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG
NCBI36
NG_007084.2:g.4939_4978delinsCAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG
Search 100 bp 5'
Search 100 bp 3'