ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480324
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294142
ClinVar RCV Id:
RCV000328763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Pro1451Leu
CA10608535
NM_031935.3:c.4352C>T