ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580467674
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2184882
ClinVar RCV Id:
RCV002603538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Thr1453Asn
CA1291983
NM_031935.3:c.4358C>A