ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232861
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1169594
ClinVar RCV Id:
RCV001521095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Pro2478Ser
CA10457378
NM_000489.5:c.7432C>T