ClinGen Allele Registry
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Canonical Allele Identifier:
CA12726365
Community Standard Title: NC_000008.11:g.57865559T>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.57865559T>G , CM000670.2:g.57865559T>G
GRCh38
NC_000008.10:g.58778118T>G , CM000670.1:g.58778118T>G
GRCh37
NC_000008.9:g.58940672T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928921.1:n.346+941T>G
XR_928921.2:n.348+941T>G
Search 100 bp 5'
Search 100 bp 3'