ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915989218
Gene: HMGCL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11955
ClinVar RCV Id:
RCV000012733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159531.1:p.Val70Leu
CA256130
NM_001166059.2:c.208G>C