ClinGen Allele Registry
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Canonical Allele Identifier:
CA2570516821
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656519G>A , CM000667.2:g.162656519G>A
GRCh38
NC_000005.9:g.162083525G>A , CM000667.1:g.162083525G>A
GRCh37
NC_000005.8:g.162016103G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3583C>T
Search 100 bp 5'
Search 100 bp 3'