ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA963354002
Gene:
Linked Data
dbSNP Id:
rs2039540462
gnomAD v3:
14-54840013-C-A
gnomAD v4:
14-54840013-C-A
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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54840013C>A , CM000676.2:g.54840013C>A
GRCh38
NC_000014.8:g.55306731C>A , CM000676.1:g.55306731C>A
GRCh37
NC_000014.7:g.54376481C>A
NCBI36
NG_008647.1:g.67812G>T
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