ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580467336
Gene: HMCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Ala232Thr
CA1290917
NM_031935.3:c.694G>A