ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA977666454
Gene:
Linked Data
dbSNP Id:
rs1596990122
gnomAD v3:
16-56959706-C-T
gnomAD v4:
16-56959706-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56959706C>T , CM000678.2:g.56959706C>T
GRCh38
NC_000016.9:g.56993618C>T , CM000678.1:g.56993618C>T
GRCh37
NC_000016.8:g.55551119C>T
NCBI36
NG_008952.1:g.2784C>T
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