ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828235439
Gene: ESPN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
163412
ClinVar RCV Id:
RCV000150656
RCV000477776
RCV000885850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354402.1:p.Pro350Ser
CA176051
NM_001367473.1:c.1048C>T