ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579857443
Gene: HMGCR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0907
Score
0.0884
Score
0.08
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000850.1:p.Leu546Ser
CA360125062
NM_000859.3:c.1637T>C