ClinGen Allele Registry
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Canonical Allele Identifier:
CA2581137682
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48892795G>A , CM000675.2:g.48892795G>A
GRCh38
NC_000013.10:g.49466931G>A , CM000675.1:g.49466931G>A
GRCh37
NC_000013.9:g.48364932G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749987.1:n.221-4249G>A
Search 100 bp 5'
Search 100 bp 3'