ClinGen Allele Registry
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Canonical Allele Identifier:
CA2330336281
Community Standard Title: NC_000019.10:g.28544649T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.28544649T= , CM000681.2:g.28544649T=
GRCh38
NC_000019.9:g.29035556T= , CM000681.1:g.29035556T=
GRCh37
NC_000019.8:g.33727396T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110759.1:n.657-77869A=
XR_243979.1:n.110-51626A=
Search 100 bp 5'
Search 100 bp 3'