Canonical Allele Identifier: PA645480519
Gene: HMCN1 HGNC NCBI
ClinVar RCV:
RCV000302813
ClinVar Variation:
294215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114141.2:p.Met3229Val
CA1293514
NM_031935.3:c.9685A>G