ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2035050144
Gene:
Linked Data
dbSNP Id:
rs1943079478
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.49282271C>T , CM000674.2:g.49282271C>T
GRCh38
NC_000012.11:g.49676054C>T , CM000674.1:g.49676054C>T
GRCh37
NC_000012.10:g.47962321C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'