ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2594973383
Gene:
Linked Data
dbSNP Id:
rs2143403375
gnomAD v3:
17-49486738-A-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49486738A>T , CM000679.2:g.49486738A>T
GRCh38
NC_000017.10:g.47564100A>T , CM000679.1:g.47564100A>T
GRCh37
NC_000017.9:g.44919099A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'