ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2002576360
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442740T= , CM000673.2:g.116442740T=
GRCh38
NC_000011.9:g.116313457T= , CM000673.1:g.116313457T=
GRCh37
NC_000011.8:g.115818667T=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001748403.1:n.349+31137A=
Search 100 bp 5'
Search 100 bp 3'