ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247997
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199028
ClinVar RCV Id:
RCV000180511
RCV002517764
RCV004537510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Lys425Gln
CA247996
NM_000489.5:c.1273A>C