ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2180493380
Gene:
Linked Data
dbSNP Id:
rs1899934636
gnomAD v4:
15-58750008-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750008G>C , CM000677.2:g.58750008G>C
GRCh38
NC_000015.9:g.59042207G>C , CM000677.1:g.59042207G>C
GRCh37
NC_000015.8:g.56829499G>C
NCBI36
NG_033876.1:g.4971C>G
NG_033876.2:g.4700C>G
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