ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830167829
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001933929
ClinVar Variation:
1437175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Ala1333Thr
CA10067446
NM_130444.2:c.3997G>A