ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830496994
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
509844
ClinVar RCV Id:
RCV000606128
RCV001860281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala2490Pro
CA372525148
NM_201382.4:c.7468G>C