ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580418752
Gene: PACS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060496.2:p.Val714Ile
CA6116791
NM_018026.4:c.2140G>A