ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580468734
Gene: HMCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2420910
ClinVar RCV Id:
RCV003122075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114141.2:p.Ala4330Thr
CA1294517
NM_031935.3:c.12988G>A