ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741870907
Gene: HMGCR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351116.1:p.Ser508del
CA645556065
NM_001364187.1:c.1522_1524del