ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830486440
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000317893
RCV000648499
RCV000725398
RCV002519086
ClinVar Variation:
281265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2927Trp
CA4925162
NM_201379.3:c.8779C>T