ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829729150
Gene: ESPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3090473
ClinVar RCV Id:
RCV004380892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036423.4:p.Val1789Ile
CA6597924
NM_012291.5:c.5365G>A