ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2180493812
Gene:
Linked Data
dbSNP Id:
rs1899949178
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750242C>T , CM000677.2:g.58750242C>T
GRCh38
NC_000015.9:g.59042441C>T , CM000677.1:g.59042441C>T
GRCh37
NC_000015.8:g.56829733C>T
NCBI36
NG_033876.1:g.4737G>A
NG_033876.2:g.4466G>A
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