ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472421
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360636
ClinVar RCV Id:
RCV000327769
RCV000382394
RCV000492857
RCV000984480
RCV004530459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Ala110Thr
CA4292446
NM_000501.4:c.328G>A