ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828304996
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
559301
ClinVar RCV Id:
RCV000676806
RCV002532176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355930.1:p.Tyr129Cys
CA192400994
NM_001369001.1:c.386A>G