ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741986842
Gene: PLBD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2602064
ClinVar RCV Id:
RCV004350058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079105.4:p.Gly423Ser
CA233190429
NM_024829.6:c.1267G>A