ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828834202
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018655
RCV000248578
RCV000711309
ClinVar Variation:
17118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Asp1260Asn
CA127084
NM_001379500.1:c.3778G>A