ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164379
Gene: HMGCL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375793
ClinVar RCV Id:
RCV001902528
RCV003886530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000182.2:p.Leu300Pro
CA339019945
NM_000191.3:c.899T>C