ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830249918
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431119
ClinVar RCV Id:
RCV000496126
RCV003332185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Ala1584Val
CA413704566
NM_138270.5:c.4751C>T