ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742021625
Gene: P4HTM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808808.1:p.Arg273Trp
CA2388386
NM_177939.2:c.817C>T