ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1786731444
Community Standard Title: NC_000008.11:g.57865559T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.57865559T= , CM000670.2:g.57865559T=
GRCh38
NC_000008.10:g.58778118T= , CM000670.1:g.58778118T=
GRCh37
NC_000008.9:g.58940672T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928921.1:n.346+941T=
XR_928921.2:n.348+941T=
Search 100 bp 5'
Search 100 bp 3'