ClinGen Allele Registry
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Canonical Allele Identifier:
PA645458537
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
371594
ClinVar RCV:
RCV000437288
RCV001040596
RCV001509353
ClinVar Variation:
383010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Ala4017Thr
CA4924281
NM_201380.4:c.12049G>A