ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139737765
Gene: PUM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055491.1:p.Ser802Phe
CA339564757
NM_014676.3:c.2405C>T