ClinGen Allele Registry
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Canonical Allele Identifier:
CA2718932227
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2118116583
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120434A>T , CM000671.2:g.15120434A>T
GRCh38
NC_000009.11:g.15120432A>T , CM000671.1:g.15120432A>T
GRCh37
NC_000009.10:g.15110432A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5296T>A
Search 100 bp 5'
Search 100 bp 3'