ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103856
Gene: HMGCL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501099
ClinVar RCV Id:
RCV000594403
RCV001805202
RCV003226335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000182.2:p.Arg165Gln
CA686090
NM_000191.3:c.494G>A