ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA104044
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_000182.2:p.Val70Leu
CA256130
NM_000191.3:c.208G>C