ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480664
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294260
ClinVar RCV Id:
RCV000266367
RCV000892497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Lys4352Arg
CA1294540
NM_031935.3:c.13055A>G