ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2206404134
Gene:
Linked Data
dbSNP Id:
rs1898214197
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249416G>A , CM000678.2:g.9249416G>A
GRCh38
NC_000016.9:g.9343273G>A , CM000678.1:g.9343273G>A
GRCh37
NC_000016.8:g.9250774G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64683G>A
Search 100 bp 5'
Search 100 bp 3'