×
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:
CA1099625383
Gene:
Linked Data
dbSNP Id:
rs59942729
gnomAD v3:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38
NC_000007.13:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37
NC_000007.12:g.27304426_27304427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'