ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458448
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_958782.1:p.Thr3058Met
CA4925193
NM_201380.4:c.9173C>T