ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1804794086
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269550T= , CM000670.2:g.97269550T=
GRCh38
NC_000008.10:g.98281778T= , CM000670.1:g.98281778T=
GRCh37
NC_000008.9:g.98350954T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149520A=
Search 100 bp 5'
Search 100 bp 3'