ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830476298
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
370139
ClinVar RCV:
RCV000444396
RCV000686363
RCV000726447
RCV003168674
ClinVar Variation:
387220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Glu974Gln
CA4927274
NM_201378.4:c.2920G>C