ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830369282
Gene: P4HTM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808807.2:p.Arg273Trp
CA2388386
NM_177938.2:c.817C>T