ClinGen Allele Registry
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Canonical Allele Identifier:
CA2520567875
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045170C>G , CM000674.2:g.28045170C>G
GRCh38
NC_000012.11:g.28198103C>G , CM000674.1:g.28198103C>G
GRCh37
NC_000012.10:g.28089370C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6212G>C
Search 100 bp 5'
Search 100 bp 3'