ClinGen Allele Registry
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Canonical Allele Identifier:
PA114458
Gene: TPCN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000763
ClinVar Variation:
727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620714.2:p.Met484Leu
CA114457
NM_139075.4:c.1450A>T
CA6155275
NM_139075.4:c.1450A>C