ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2718931822
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2118116208
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120300A>G , CM000671.2:g.15120300A>G
GRCh38
NC_000009.11:g.15120298A>G , CM000671.1:g.15120298A>G
GRCh37
NC_000009.10:g.15110298A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5430T>C
Search 100 bp 5'
Search 100 bp 3'