×
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:
CA963361570
Gene:
Linked Data
dbSNP Id:
rs1881870424
gnomAD v3:
14-55147832-TAAAAAC-T
gnomAD v4:
14-55147832-TAAAAAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.55147838_55147843del , CM000676.2:g.55147838_55147843del
GRCh38
NC_000014.8:g.55614556_55614561del , CM000676.1:g.55614556_55614561del
GRCh37
NC_000014.7:g.54684309_54684314del
NCBI36
Search 100 bp 5'
Search 100 bp 3'