ClinGen Allele Registry
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Canonical Allele Identifier:
CA772782733
Gene:
Linked Data
dbSNP Id:
rs1177595865
MyVariant Identifiers:
chr17:g.48289226A>T (hg19)
chr17:g.50211865A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211865A>T , CM000679.2:g.50211865A>T
GRCh38
NC_000017.10:g.48289226A>T , CM000679.1:g.48289226A>T
GRCh37
NC_000017.9:g.45644225A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1970A>T
Search 100 bp 5'
Search 100 bp 3'