ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741938953
Gene: ESPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3038521
ClinVar RCV Id:
RCV003921941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036423.4:p.Arg1318Gln
CA6597573
NM_012291.5:c.3953G>A