ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472555
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360661
ClinVar RCV Id:
RCV000311994
RCV000369053
RCV000443075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Pro693Ser
CA4293372
NM_000501.4:c.2077C>T