ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579853190
Gene: HMGCR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000850.1:p.Ile793Leu
CA360129239
NM_000859.3:c.2377A>C