ClinGen Allele Registry
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Canonical Allele Identifier:
CA2221608937
Community Standard Title: NC_000016.10:g.50109033A=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.50109033A= , CM000678.2:g.50109033A=
GRCh38
NC_000016.9:g.50142944A= , CM000678.1:g.50142944A=
GRCh37
NC_000016.8:g.48700445A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011523490.1:c.115-2381T=
XP_011521792.1:n.115-2381T=
Search 100 bp 5'
Search 100 bp 3'