ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076500
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340262
ClinVar RCV Id:
RCV000296080
RCV001263255
RCV002523187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Pro986Ser
CA10653680
NM_001379500.1:c.2956C>T