×
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:
CA1689284809
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514300_13514303delinsAAAG , CM000669.2:g.13514300_13514303delinsAAAG
GRCh38
NC_000007.13:g.13553925_13553928delinsAAAG , CM000669.1:g.13553925_13553928delinsAAAG
GRCh37
NC_000007.12:g.13520450_13520453delinsAAAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745097.1:n.148-188016_148-188013delinsAAAG
Search 100 bp 5'
Search 100 bp 3'