ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828833484
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490890
ClinVar Variation:
427899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Gly538Val
CA410518558
NM_001379500.1:c.1613G>T