ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826199970
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136752
ClinVar RCV Id:
RCV003037319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182178.1:p.Ser242Asn
CA321109
NM_001195249.2:c.725G>A