ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741993624
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2875914
ClinVar RCV Id:
RCV003707499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Arg1187Ile
CA343870887
NM_031935.3:c.3560G>T