ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA127085
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569712.2:p.Asp1257Asn
CA127084
NM_130445.4:c.3769G>A