ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580469172
Gene: HMCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002600669
ClinVar Variation:
1912160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Arg5249Cys
CA1295362
NM_031935.3:c.15745C>T