ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580120308
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1992338
ClinVar RCV Id:
RCV002795908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Ser2043Pro
CA413702504
NM_000489.5:c.6127T>C