ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830507566
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000443829
RCV000820018
RCV003129858
RCV003258811
ClinVar Variation:
383828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ser3763Leu
CA4924391
NM_201384.3:c.11288C>T