ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580385847
Gene: PCNX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055797.2:p.Leu883Val
CA7251178
NM_014982.3:c.2647C>G