ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499284238
Gene: PACS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060496.2:p.Arg506Trp
CA6116601
NM_018026.4:c.1516C>T