ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2206404207
Gene:
Linked Data
dbSNP Id:
rs1482432487
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249552A>C , CM000678.2:g.9249552A>C
GRCh38
NC_000016.9:g.9343409A>C , CM000678.1:g.9343409A>C
GRCh37
NC_000016.8:g.9250910A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64819A>C
Search 100 bp 5'
Search 100 bp 3'