ClinGen Allele Registry
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Canonical Allele Identifier:
CA2018036618
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48892795G= , CM000675.2:g.48892795G=
GRCh38
NC_000013.10:g.49466931G= , CM000675.1:g.49466931G=
GRCh37
NC_000013.9:g.48364932G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749987.1:n.221-4249G=
Search 100 bp 5'
Search 100 bp 3'