ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093385
Gene: PACS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060496.2:p.Asp530Asn
CA6116609
NM_018026.4:c.1588G>A