ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741938957
Gene: ESPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2550567
ClinVar RCV Id:
RCV004319927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036423.4:p.Arg1780Trp
CA385071497
NM_012291.5:c.5338C>T