ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638676350
Gene:
Linked Data
gnomAD v4:
17-50211904-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211904A>G , CM000679.2:g.50211904A>G
GRCh38
NC_000017.10:g.48289265A>G , CM000679.1:g.48289265A>G
GRCh37
NC_000017.9:g.45644264A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1931A>G
Search 100 bp 5'
Search 100 bp 3'