ClinGen Allele Registry
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Canonical Allele Identifier:
CA2812238174
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.41477709C>T , CM000680.2:g.41477709C>T
GRCh38
NC_000018.9:g.39057673C>T , CM000680.1:g.39057673C>T
GRCh37
NC_000018.8:g.37311671C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935409.1:n.86-26425C>T
Search 100 bp 5'
Search 100 bp 3'