ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272558
Gene: PCNT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006022.3:p.Pro2062Leu
CA10080275
NM_006031.5:c.6185C>T