ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2485026949
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379711A= , CM000663.2:g.211379711A=
GRCh38
NC_000001.10:g.211553053A= , CM000663.1:g.211553053A=
GRCh37
NC_000001.9:g.209619676A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001738446.1:n.291+2484T=
Search 100 bp 5'
Search 100 bp 3'