ClinGen Allele Registry
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Canonical Allele Identifier:
CA1094718409
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.134398918C>A , CM000668.2:g.134398918C>A
GRCh38
NC_000006.11:g.134720056C>A , CM000668.1:g.134720056C>A
GRCh37
NC_000006.10:g.134761749C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_428023.2:n.23+189C>A
Search 100 bp 5'
Search 100 bp 3'