ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2493232110
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485749A= , CM000664.2:g.20485749A=
GRCh38
NC_000002.11:g.20685510A= , CM000664.1:g.20685510A=
GRCh37
NC_000002.10:g.20548991A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+2989T=
Search 100 bp 5'
Search 100 bp 3'