ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375223
Gene: ERLIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226427
ClinVar RCV Id:
RCV000211706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006450.2:p.Gly50Val
CA10576346
NM_006459.4:c.149G>T