ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580468743
Gene: HMCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002923242
ClinVar Variation:
2057213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Val4334Ile
CA343907215
NM_031935.3:c.13000G>A