ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891866490
Gene: PAX4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014803
RCV003556021
ClinVar Variation:
13793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353039.1:p.Arg172Trp
CA123479
NM_001366110.1:c.514C>T