ClinGen Allele Registry
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Canonical Allele Identifier:
CA918361395
Gene:
Linked Data
dbSNP Id:
rs1554650375
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478769del , CM000670.2:g.125478769del
GRCh38
NC_000008.10:g.126491011del , CM000670.1:g.126491011del
GRCh37
NC_000008.9:g.126560193del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5455del
Search 100 bp 5'
Search 100 bp 3'