ClinGen Allele Registry
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Canonical Allele Identifier:
CA2686820522
Gene:
Linked Data
gnomAD v4:
8-30728141-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728141C>A , CM000670.2:g.30728141C>A
GRCh38
NC_000008.10:g.30585658C>A , CM000670.1:g.30585658C>A
GRCh37
NC_000008.9:g.30705200C>A
NCBI36
NG_027719.1:g.4829G>T
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