ClinGen Allele Registry
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Canonical Allele Identifier:
CA2812008836
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31756545T>G , CM000680.2:g.31756545T>G
GRCh38
NC_000018.9:g.29336508T>G , CM000680.1:g.29336508T>G
GRCh37
NC_000018.8:g.27590506T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935338.1:n.66-5594T>G
Search 100 bp 5'
Search 100 bp 3'