ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231063
Gene: CPA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128848
ClinVar RCV Id:
RCV000116828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065094.3:p.Leu310Phe
CA231062
NM_020361.5:c.928C>T