ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2718234019
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs2130033477
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127707783C>T , CM000670.2:g.127707783C>T
GRCh38
NC_000008.10:g.128720028C>T , CM000670.1:g.128720028C>T
GRCh37
NC_000008.9:g.128789210C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-4540G>A
Search 100 bp 5'
Search 100 bp 3'