ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838485390
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.69755828C>A , CM000677.2:g.69755828C>A
GRCh38
NC_000015.9:g.70048167C>A , CM000677.1:g.70048167C>A
GRCh37
NC_000015.8:g.67835221C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751592.2:n.86-328C>A
Search 100 bp 5'
Search 100 bp 3'