ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830248731
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374337
ClinVar RCV Id:
RCV000415467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Pro152Leu
CA16043718
NM_138270.5:c.455C>T