ClinGen Allele Registry
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Canonical Allele Identifier:
CA1835374405
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1821543480
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120320del , CM000671.2:g.15120320del
GRCh38
NC_000009.11:g.15120318del , CM000671.1:g.15120318del
GRCh37
NC_000009.10:g.15110318del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609203.1:n.549+5412del
Search 100 bp 5'
Search 100 bp 3'