ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221003
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93145
ClinVar RCV Id:
RCV000710719
RCV001086632
RCV002514389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Ser1990Thr
CA221002
NM_000489.5:c.5968T>A