ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580469124
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2113962
ClinVar RCV Id:
RCV003029806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Glu5150Gly
CA1295266
NM_031935.3:c.15449A>G