ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139761451
Gene: CPLANE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Ser1650Pro
CA3238629
NM_023073.4:c.4948T>C