ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA603246767
Gene: CLECL1P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1486292204
gnomAD v2:
12-9855820-A-C
gnomAD v3:
12-9703224-A-C
gnomAD v4:
12-9703224-A-C
MyVariant Identifiers:
chr12:g.9855820A>C (hg19)
chr12:g.9703224A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703224A>C , CM000674.2:g.9703224A>C
GRCh38
NC_000012.11:g.9855820A>C , CM000674.1:g.9855820A>C
GRCh37
NC_000012.10:g.9747087A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000702603.1:n.320-784T>G
Search 100 bp 5'
Search 100 bp 3'