ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104044
Gene: HMGCL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000182.2:p.Val70Leu
NM_000191.3:c.208G>C