ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506747
Gene: HMGCL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
296849
ClinVar RCV Id:
RCV000317462
RCV003105859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000182.2:p.Thr245Ile
CA685997
NM_000191.3:c.734C>T