ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981577
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31219
ClinVar RCV Id:
RCV000024218
RCV000522403
RCV003444055
RCV002271377
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Arg1336Trp
CA342791
NM_001384732.1:c.4006C>T