ClinGen Allele Registry
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Canonical Allele Identifier:
CA13941735
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68743482G>A , CM000676.2:g.68743482G>A
GRCh38
NC_000014.8:g.69210199G>A , CM000676.1:g.69210199G>A
GRCh37
NC_000014.7:g.68279952G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001750931.1:n.376-895C>T
Search 100 bp 5'
Search 100 bp 3'