ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638676317
Gene:
Linked Data
gnomAD v4:
17-50211832-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211832G>T , CM000679.2:g.50211832G>T
GRCh38
NC_000017.10:g.48289193G>T , CM000679.1:g.48289193G>T
GRCh37
NC_000017.9:g.45644192G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2003G>T
Search 100 bp 5'
Search 100 bp 3'