ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828833162
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340200
ClinVar RCV Id:
RCV000309460
RCV001398377
RCV004549780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Val231Met
CA10065850
NM_001379500.1:c.691G>A