ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2353246797
Community Standard Title: NC_000020.11:g.17844499T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.17844499T= , CM000682.2:g.17844499T=
GRCh38
NC_000020.10:g.17825143T= , CM000682.1:g.17825143T=
GRCh37
NC_000020.9:g.17773143T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754511.1:n.294+5666A=
Search 100 bp 5'
Search 100 bp 3'