ClinGen Allele Registry
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Canonical Allele Identifier:
CA143410860
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.90708033G>A , CM000668.2:g.90708033G>A
GRCh38
NC_000006.11:g.91417752G>A , CM000668.1:g.91417752G>A
GRCh37
NC_000006.10:g.91474473G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001744259.1:n.1243+46531G>A
Search 100 bp 5'
Search 100 bp 3'