×
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:
CA2727015176
Gene:
Linked Data
dbSNP Id:
rs2137332781
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501321_102501327del , CM000674.2:g.102501321_102501327del
GRCh38
NC_000012.11:g.102895099_102895105del , CM000674.1:g.102895099_102895105del
GRCh37
NC_000012.10:g.101419229_101419235del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749289.1:n.1952+17433_1952+17439del
Search 100 bp 5'
Search 100 bp 3'