ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480338
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294145
ClinVar RCV Id:
RCV000331998
RCV000974167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Thr1480Ile
CA1292003
NM_031935.3:c.4439C>T