ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA968854753
Gene:
Linked Data
dbSNP Id:
rs1361960608
gnomAD v3:
15-38614804-T-C
gnomAD v4:
15-38614804-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.38614804T>C , CM000677.2:g.38614804T>C
GRCh38
NC_000015.9:g.38907005T>C , CM000677.1:g.38907005T>C
GRCh37
NC_000015.8:g.36694297T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751736.1:n.281+2349T>C
Search 100 bp 5'
Search 100 bp 3'