ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2263926952
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211789T= , CM000679.2:g.50211789T=
GRCh38
NC_000017.10:g.48289150T= , CM000679.1:g.48289150T=
GRCh37
NC_000017.9:g.45644149T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2046T=
Search 100 bp 5'
Search 100 bp 3'