ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825175335
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000337095
RCV000648496
RCV001808731
ClinVar Variation:
284102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Thr2948Met
CA4925193
NM_000445.4:c.8843C>T