ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1292264953
Community Standard Title: NC_000002.12:g.138914385G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.138914385G= , CM000664.2:g.138914385G=
GRCh38
NC_000002.11:g.139671955G= , CM000664.1:g.139671955G=
GRCh37
NC_000002.10:g.139388425G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923370.1:n.265+2259C=
XR_923370.2:n.278+2259C=
Search 100 bp 5'
Search 100 bp 3'