ClinGen Allele Registry
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Canonical Allele Identifier:
CA764396587
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21354871G>C , CM000664.2:g.21354871G>C
GRCh38
NC_000002.11:g.21577743G>C , CM000664.1:g.21577743G>C
GRCh37
NC_000002.10:g.21431248G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939801.2:n.1564-1706G>C
Search 100 bp 5'
Search 100 bp 3'