ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830167873
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2077243
ClinVar RCV Id:
RCV002976394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Pro1359Ser
CA410499285
NM_130444.2:c.4075C>T