ClinGen Allele Registry
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Canonical Allele Identifier:
CA861404951
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1161599290
gnomAD v3:
9-15120315-G-A
gnomAD v4:
9-15120315-G-A
MyVariant Identifiers:
chr9:g.15120313G>A (hg19)
chr9:g.15120315G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120315G>A , CM000671.2:g.15120315G>A
GRCh38
NC_000009.11:g.15120313G>A , CM000671.1:g.15120313G>A
GRCh37
NC_000009.10:g.15110313G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5415C>T
Search 100 bp 5'
Search 100 bp 3'