ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472520
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000298998
RCV000407993
RCV001198806
RCV004544697
ClinVar Variation:
360660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Ala637Thr
CA4293282
NM_000501.4:c.1909G>A