ClinGen Allele Registry
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Canonical Allele Identifier:
CA2517750721
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748464T>C , CM000666.2:g.148748464T>C
GRCh38
NC_000004.11:g.149669616T>C , CM000666.1:g.149669616T>C
GRCh37
NC_000004.10:g.149889066T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118293T>C
Search 100 bp 5'
Search 100 bp 3'