ClinGen Allele Registry
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Canonical Allele Identifier:
CA1320446130
Gene:
Linked Data
dbSNP Id:
rs137899531
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033131G>T , CM000664.2:g.200033131G>T
GRCh38
NC_000002.11:g.200897854G>T , CM000664.1:g.200897854G>T
GRCh37
NC_000002.10:g.200606099G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22235C>A
Search 100 bp 5'
Search 100 bp 3'