ClinGen Allele Registry
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Canonical Allele Identifier:
CA586249518
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1470756007
gnomAD v2:
9-15120330-T-A
gnomAD v3:
9-15120332-T-A
gnomAD v4:
9-15120332-T-A
MyVariant Identifiers:
chr9:g.15120330T>A (hg19)
chr9:g.15120332T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120332T>A , CM000671.2:g.15120332T>A
GRCh38
NC_000009.11:g.15120330T>A , CM000671.1:g.15120330T>A
GRCh37
NC_000009.10:g.15110330T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5398A>T
Search 100 bp 5'
Search 100 bp 3'