ClinGen Allele Registry
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Canonical Allele Identifier:
CA2731720107
Gene:
Linked Data
dbSNP Id:
rs2141420788
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249531T>G , CM000678.2:g.9249531T>G
GRCh38
NC_000016.9:g.9343388T>G , CM000678.1:g.9343388T>G
GRCh37
NC_000016.8:g.9250889T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64798T>G
Search 100 bp 5'
Search 100 bp 3'