ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063885936
Gene: HMCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Val1184Leu
CA343870840
NM_031935.3:c.3550G>C