×
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:
CA971242237
Gene:
Linked Data
dbSNP Id:
rs2031848564
gnomAD v3:
15-70816734-CTT-C
gnomAD v4:
15-70816734-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.70816737_70816738del , CM000677.2:g.70816737_70816738del
GRCh38
NC_000015.9:g.71109076_71109077del , CM000677.1:g.71109076_71109077del
GRCh37
NC_000015.8:g.68896130_68896131del
NCBI36
Search 100 bp 5'
Search 100 bp 3'