×
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:
CA916713050
Gene:
Linked Data
dbSNP Id:
rs1558978667
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173462163del , CM000664.2:g.173462163del
GRCh38
NC_000002.11:g.174326891del , CM000664.1:g.174326891del
GRCh37
NC_000002.10:g.174035137del
NCBI36
Search 100 bp 5'
Search 100 bp 3'