ClinGen Allele Registry
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Canonical Allele Identifier:
CA1121649889
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1821543631
gnomAD v3:
9-15120339-T-C
gnomAD v4:
9-15120339-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120339T>C , CM000671.2:g.15120339T>C
GRCh38
NC_000009.11:g.15120337T>C , CM000671.1:g.15120337T>C
GRCh37
NC_000009.10:g.15110337T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5391A>G
Search 100 bp 5'
Search 100 bp 3'