ClinGen Allele Registry
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Canonical Allele Identifier:
CA122896189
Gene:
Linked Data
dbSNP Id:
rs987206140
MyVariant Identifiers:
chr5:g.91518820C>A (hg19)
chr5:g.92223003C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92223003C>A , CM000667.2:g.92223003C>A
GRCh38
NC_000005.9:g.91518820C>A , CM000667.1:g.91518820C>A
GRCh37
NC_000005.8:g.91554576C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18319C>A
Search 100 bp 5'
Search 100 bp 3'