ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1596629184
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656606T= , CM000667.2:g.162656606T=
GRCh38
NC_000005.9:g.162083612T= , CM000667.1:g.162083612T=
GRCh37
NC_000005.8:g.162016190T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3496A=
Search 100 bp 5'
Search 100 bp 3'