ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2709808250
Gene:
Linked Data
dbSNP Id:
rs1780760373
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.113714813A>C , CM000667.2:g.113714813A>C
GRCh38
NC_000005.9:g.113050510A>C , CM000667.1:g.113050510A>C
GRCh37
NC_000005.8:g.113078409A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742840.1:n.153-18748A>C
Search 100 bp 5'
Search 100 bp 3'