ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA11800060
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.52430144G>A , CM000666.2:g.52430144G>A
GRCh38
NC_000004.11:g.53296310G>A , CM000666.1:g.53296310G>A
GRCh37
NC_000004.10:g.52991067G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959793.1:n.638-5863C>T
Search 100 bp 5'
Search 100 bp 3'