ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2263926957
Gene:
Linked Data
dbSNP Id:
rs1908570239
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211798del , CM000679.2:g.50211798del
GRCh38
NC_000017.10:g.48289159del , CM000679.1:g.48289159del
GRCh37
NC_000017.9:g.45644158del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2037del
Search 100 bp 5'
Search 100 bp 3'