ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669332
Gene:
Linked Data
gnomAD v4:
17-49995288-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995288G>C , CM000679.2:g.49995288G>C
GRCh38
NC_000017.10:g.48072652G>C , CM000679.1:g.48072652G>C
GRCh37
NC_000017.9:g.45427651G>C
NCBI36
NG_023063.1:g.4937C>G
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