ClinGen Allele Registry
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Canonical Allele Identifier:
CA984456407
Gene:
Linked Data
dbSNP Id:
rs1908569534
gnomAD v3:
17-50211734-T-G
gnomAD v4:
17-50211734-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211734T>G , CM000679.2:g.50211734T>G
GRCh38
NC_000017.10:g.48289095T>G , CM000679.1:g.48289095T>G
GRCh37
NC_000017.9:g.45644094T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2101T>G
Search 100 bp 5'
Search 100 bp 3'