ClinGen Allele Registry
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Canonical Allele Identifier:
CA2206404241
Gene:
Linked Data
dbSNP Id:
rs1898216562
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249617C>T , CM000678.2:g.9249617C>T
GRCh38
NC_000016.9:g.9343474C>T , CM000678.1:g.9343474C>T
GRCh37
NC_000016.8:g.9250975C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64884C>T
Search 100 bp 5'
Search 100 bp 3'