ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2470723783
Gene:
Linked Data
dbSNP Id:
rs2043546207
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15458640C>T , CM000686.2:g.15458640C>T
GRCh38
NC_000024.9:g.17570520C>T , CM000686.1:g.17570520C>T
GRCh37
NC_000024.8:g.16079914C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938614.1:n.81-1654C>T
Search 100 bp 5'
Search 100 bp 3'