ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580468092
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1985770
ClinVar RCV Id:
RCV002805325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Gly2727Glu
CA1293063
NM_031935.3:c.8180G>A