ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580468741
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2413236
ClinVar RCV Id:
RCV003110239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Ala4330Val
CA343907163
NM_031935.3:c.12989C>T