ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2636331982
Gene:
Linked Data
gnomAD v4:
17-16972199-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.16972199T>G , CM000679.2:g.16972199T>G
GRCh38
NC_000017.10:g.16875513T>G , CM000679.1:g.16875513T>G
GRCh37
NC_000017.9:g.16816238T>G
NCBI36
NG_007281.1:g.4890A>C , LRG_120:g.4890A>C
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