ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827479123
Gene: PACSIN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004170992
ClinVar Variation:
2323384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336898.1:p.Ser427Leu
CA10271158
NM_001349969.2:c.1280C>T