ClinGen Allele Registry
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Canonical Allele Identifier:
CA2538752207
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94563998T>C , CM000663.2:g.94563998T>C
GRCh38
NC_000001.10:g.95029554T>C , CM000663.1:g.95029554T>C
GRCh37
NC_000001.9:g.94802142T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738161.1:n.461+385T>C
Search 100 bp 5'
Search 100 bp 3'