ClinGen Allele Registry
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Canonical Allele Identifier:
CA2470003458
Community Standard Title: NC_000024.10:g.8634195A=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.8634195A= , CM000686.2:g.8634195A=
GRCh38
NC_000024.9:g.8502236A= , CM000686.1:g.8502236A=
GRCh37
NC_000024.8:g.8562236A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000624593.1:c.-17-1124T=
ENSP00000485106.1:n.-17-1124T=
Search 100 bp 5'
Search 100 bp 3'