ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580422964
Gene: PCMTD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060727.2:p.Gln79Glu
CA9975581
NM_018257.3:c.235C>G