ClinGen Allele Registry
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Canonical Allele Identifier:
CA2579846227
Gene:
Linked Data
dbSNP Id:
rs2126694325
gnomAD v4:
5-1295123-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295123C>T , CM000667.2:g.1295123C>T
GRCh38
NC_000005.9:g.1295238C>T , CM000667.1:g.1295238C>T
GRCh37
NC_000005.8:g.1348238C>T
NCBI36
NG_009265.1:g.4925G>A , LRG_343:g.4925G>A
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