ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA997194087
Gene:
Linked Data
dbSNP Id:
rs2065794388
gnomAD v3:
19-54871448-C-T
gnomAD v4:
19-54871448-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.54871448C>T , CM000681.2:g.54871448C>T
GRCh38
NC_000019.8:g.60074716C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'