ClinGen Allele Registry
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Canonical Allele Identifier:
CA1083165652
Gene: SAP30L-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1756770812
gnomAD v3:
5-154432112-A-G
gnomAD v4:
5-154432112-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154432112A>G , CM000667.2:g.154432112A>G
GRCh38
NC_000005.9:g.153811672A>G , CM000667.1:g.153811672A>G
GRCh37
NC_000005.8:g.153791865A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037897.1:n.204+11250T>C
Search 100 bp 5'
Search 100 bp 3'