ClinGen Allele Registry
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Canonical Allele Identifier:
CA1199588350
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.147754660G>C , CM000663.2:g.147754660G>C
GRCh38
NG_009369.2:g.23715C>G
Transcript Alleles
HGVS
Amino-acid Change
XR_922078.1:n.434-22901G>C
XR_922079.1:n.434-22901G>C
XR_922079.3:n.744-22901G>C
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