ClinGen Allele Registry
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Canonical Allele Identifier:
CA2381739147
Gene:
Linked Data
dbSNP Id:
rs1981478315
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259304C>T , CM000683.2:g.22259304C>T
GRCh38
NC_000021.8:g.23631624C>T , CM000683.1:g.23631624C>T
GRCh37
NC_000021.7:g.22553495C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46491C>T
Search 100 bp 5'
Search 100 bp 3'