ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580438100
Gene: ERO1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_063944.3:p.Ile453Val
CA39671553
NM_019891.4:c.1357A>G