ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453957
Gene: PLBD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2208042
ClinVar RCV Id:
RCV004070062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079105.4:p.Arg439His
CA6462498
NM_024829.6:c.1316G>A