ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830035939
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002890599
ClinVar Variation:
2038252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Gly1090Glu
CA10067442
NM_030582.4:c.3269G>A