ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480618
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000309057
RCV001859768
RCV004021398
ClinVar Variation:
294241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Gly4025Asp
CA1294243
NM_031935.3:c.12074G>A