ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573292569
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1574802
ClinVar RCV Id:
RCV002083085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Ala2725Val
CA1293060
NM_031935.3:c.8174C>T