ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825044268
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435060
ClinVar RCV Id:
RCV000500817
RCV000633131
RCV001565138
RCV002367686
RCV004551628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Leu221Pro
CA374983528
NM_000118.3:c.662T>C