ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573292863
Gene: HMCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001930236
ClinVar Variation:
1408838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Thr5248Ile
CA33502300
NM_031935.3:c.15743C>T