ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2185570129
Gene:
Linked Data
dbSNP Id:
rs1895830537
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.69755631G>A , CM000677.2:g.69755631G>A
GRCh38
NC_000015.9:g.70047970G>A , CM000677.1:g.70047970G>A
GRCh37
NC_000015.8:g.67835024G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751592.2:n.86-525G>A
Search 100 bp 5'
Search 100 bp 3'