ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480469
Gene: HMCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Gly2830Glu
CA1293145
NM_031935.3:c.8489G>A