ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579856210
Gene: HMGCR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4368
Score
0.5157
Score
0.3736
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000850.1:p.Ile638Val
CA3308759
NM_000859.3:c.1912A>G