ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2041492832
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.63017985A>C , CM000674.2:g.63017985A>C
GRCh38
NC_000012.11:g.63411765A>C , CM000674.1:g.63411765A>C
GRCh37
NC_000012.10:g.61698032A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_429154.2:n.27-4077A>C
Search 100 bp 5'
Search 100 bp 3'