ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1584332645
Gene:
Linked Data - NCBI & NCI
dbSNP:
526896
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.135021015T>C , CM000667.2:g.135021015T>C
GRCh38
NC_000005.9:g.134356705T>C , CM000667.1:g.134356705T>C
GRCh37
NC_000005.8:g.134384604T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742894.1:n.378+870A>G
Search 100 bp 5'
Search 100 bp 3'