ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1563552070
Gene:
Linked Data
dbSNP Id:
rs1744563940
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222760C>T , CM000667.2:g.92222760C>T
GRCh38
NC_000005.9:g.91518577C>T , CM000667.1:g.91518577C>T
GRCh37
NC_000005.8:g.91554333C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18076C>T
Search 100 bp 5'
Search 100 bp 3'