ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2718750755
Gene:
Linked Data
dbSNP Id:
rs2130929885
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.5189724C>A , CM000671.2:g.5189724C>A
GRCh38
NC_000009.11:g.5189724C>A , CM000671.1:g.5189724C>A
GRCh37
NC_000009.10:g.5179724C>A
NCBI36
NG_046969.1:g.987G>T
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