ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2504803577
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981213G>A , CM000670.2:g.88981213G>A
GRCh38
NC_000008.10:g.89993442G>A , CM000670.1:g.89993442G>A
GRCh37
NC_000008.9:g.90062558G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99152C>T
Search 100 bp 5'
Search 100 bp 3'