ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1510999053
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.167343098C>A , CM000666.2:g.167343098C>A
GRCh38
NC_000004.11:g.168264249C>A , CM000666.1:g.168264249C>A
GRCh37
NC_000004.10:g.168500824C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939421.1:n.217-34311G>T
Search 100 bp 5'
Search 100 bp 3'