ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2556165874
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748465G>A , CM000666.2:g.148748465G>A
GRCh38
NC_000004.11:g.149669617G>A , CM000666.1:g.149669617G>A
GRCh37
NC_000004.10:g.149889067G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118292G>A
Search 100 bp 5'
Search 100 bp 3'