ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2491383727
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458464A= , CM000664.2:g.16458464A=
GRCh38
NC_000002.11:g.16639732A= , CM000664.1:g.16639732A=
GRCh37
NC_000002.10:g.16503213A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3370T=
Search 100 bp 5'
Search 100 bp 3'