ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580552419
Gene: PLCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2111931
ClinVar RCV Id:
RCV003034286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_877398.1:p.Val726Leu
CA408207080
NM_182734.3:c.2176G>C