Canonical Allele Identifier: CA1596629183
Gene:

Linked Data

dbSNP Id: rs1756515987
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162656603_162656605dup , CM000667.2:g.162656603_162656605dup GRCh38
NC_000005.9:g.162083609_162083611dup , CM000667.1:g.162083609_162083611dup GRCh37
NC_000005.8:g.162016187_162016189dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742958.1:n.418+3497_418+3499dup
Search 100 bp 5'
Search 100 bp 3'