ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA651610725
Gene:
Linked Data
COSMIC:
COSN1343019
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13400595del , CM000669.2:g.13400595del
GRCh38
NC_000007.13:g.13440220del , CM000669.1:g.13440220del
GRCh37
NC_000007.12:g.13406745del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.147+90272del
Search 100 bp 5'
Search 100 bp 3'