ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2338079405
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44728212G>C , CM000681.2:g.44728212G>C
GRCh38
NC_000019.9:g.45231478G>C , CM000681.1:g.45231478G>C
GRCh37
NC_000019.8:g.49923318G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935983.1:n.585-7C>G
Search 100 bp 5'
Search 100 bp 3'