ClinGen Allele Registry
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Canonical Allele Identifier:
CA813238993
Gene:
Linked Data
dbSNP Id:
rs1012688784
MyVariant Identifiers:
chr5:g.65783725G>T (hg19)
chr5:g.66487897G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.66487897G>T , CM000667.2:g.66487897G>T
GRCh38
NC_000005.9:g.65783725G>T , CM000667.1:g.65783725G>T
GRCh37
NC_000005.8:g.65819481G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948381.1:n.649-48939G>T
Search 100 bp 5'
Search 100 bp 3'