ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580235624
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_001366429.1:p.Pro944Ser
CA410499285
NM_001379500.1:c.2830C>T