ClinGen Allele Registry
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Canonical Allele Identifier:
CA291560844
Gene:
Linked Data
dbSNP Id:
rs949332135
MyVariant Identifiers:
chr17:g.48289216T>C (hg19)
chr17:g.50211855T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211855T>C , CM000679.2:g.50211855T>C
GRCh38
NC_000017.10:g.48289216T>C , CM000679.1:g.48289216T>C
GRCh37
NC_000017.9:g.45644215T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1980T>C
Search 100 bp 5'
Search 100 bp 3'