ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580235582
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002798569
ClinVar Variation:
2266366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Asp917Asn
CA410499131
NM_001379500.1:c.2749G>A