ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1139039795
Gene: RBMY2QP
HGNC
NCBI
Linked Data
gnomAD v3:
Y-9981612-C-T
gnomAD v4:
Y-9981612-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9981612C>T , CM000686.2:g.9981612C>T
GRCh38
NC_000024.9:g.9819221C>T , CM000686.1:g.9819221C>T
GRCh37
NC_000024.8:g.10429221C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651645.1:n.1003+7578G>A
Search 100 bp 5'
Search 100 bp 3'