ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1573933646
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.113660893T= , CM000667.2:g.113660893T=
GRCh38
NC_000005.9:g.112996590T= , CM000667.1:g.112996590T=
GRCh37
NC_000005.8:g.113024489T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742841.1:n.59+27529T=
Search 100 bp 5'
Search 100 bp 3'