ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826617647
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449781
ClinVar RCV Id:
RCV000522898
RCV001158464
RCV001158465
RCV004541630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265847.1:p.Val144Met
CA4292496
NM_001278918.2:c.430G>A