×
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:
CA1072182383
Gene:
Linked Data
gnomAD v3:
4-188940050-TA-T
gnomAD v4:
4-188940050-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.188940054del , CM000666.2:g.188940054del
GRCh38
NC_000004.11:g.189861208del , CM000666.1:g.189861208del
GRCh37
NC_000004.10:g.190098202del
NCBI36
Search 100 bp 5'
Search 100 bp 3'