ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830499059
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000595493
RCV000817784
RCV004024797
ClinVar Variation:
500806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ser4536Leu
CA4923747
NM_201382.4:c.13607C>T