ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573292745
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1480325
ClinVar RCV Id:
RCV002022038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Val4334Ala
CA1294519
NM_031935.3:c.13001T>C