ClinGen Allele Registry
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Canonical Allele Identifier:
CA1374121537
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266734G= , CM000665.2:g.72266734G=
GRCh38
NC_000003.11:g.72315885G= , CM000665.1:g.72315885G=
GRCh37
NC_000003.10:g.72398575G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8374C=
Search 100 bp 5'
Search 100 bp 3'