×
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:
CA2678611376
Gene:
Linked Data
gnomAD v4:
6-39048763-GCCCGCCACCAGCCCGGGATCAGTCTCCGCACGCGGTTCCGCAGGTGGCAGCGATGGCCCAGTCCTGAACTC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.39048771_39048841del , CM000668.2:g.39048771_39048841del
GRCh38
NC_000006.11:g.39016547_39016617del , CM000668.1:g.39016547_39016617del
GRCh37
NC_000006.10:g.39124525_39124595del
NCBI36
Search 100 bp 5'
Search 100 bp 3'