ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1318169483
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007117C= , CM000664.2:g.195007117C=
GRCh38
NC_000002.11:g.195871841C= , CM000664.1:g.195871841C=
GRCh37
NC_000002.10:g.195580086C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739836.1:n.553+52318G=
Search 100 bp 5'
Search 100 bp 3'