ClinGen Allele Registry
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Canonical Allele Identifier:
CA2224227989
Gene:
Linked Data
dbSNP Id:
rs1580833
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56610738C>T , CM000678.2:g.56610738C>T
GRCh38
NC_000016.9:g.56644650C>T , CM000678.1:g.56644650C>T
GRCh37
NC_000016.8:g.55202151C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_933616.1:n.605+578G>A
Search 100 bp 5'
Search 100 bp 3'