ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247999
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199029
ClinVar RCV Id:
RCV000180512
RCV002517765
RCV000640830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Gly1031Ser
CA247998
NM_000489.5:c.3091G>A