ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA100086144
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74577305C>T , CM000666.2:g.74577305C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.166+6710G>A
Search 100 bp 5'
Search 100 bp 3'