ClinGen Allele Registry
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Canonical Allele Identifier:
CA189418261
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs555308792
gnomAD v3:
9-15120448-C-T
gnomAD v4:
9-15120448-C-T
MyVariant Identifiers:
chr9:g.15120446C>T (hg19)
chr9:g.15120448C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120448C>T , CM000671.2:g.15120448C>T
GRCh38
NC_000009.11:g.15120446C>T , CM000671.1:g.15120446C>T
GRCh37
NC_000009.10:g.15110446C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5282G>A
Search 100 bp 5'
Search 100 bp 3'