ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA861404971
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1416801411
gnomAD v3:
9-15120515-T-G
gnomAD v4:
9-15120515-T-G
MyVariant Identifiers:
chr9:g.15120513T>G (hg19)
chr9:g.15120515T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120515T>G , CM000671.2:g.15120515T>G
GRCh38
NC_000009.11:g.15120513T>G , CM000671.1:g.15120513T>G
GRCh37
NC_000009.10:g.15110513T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5215A>C
Search 100 bp 5'
Search 100 bp 3'